Full data view for gene SNRPN

Information The variants shown are described using the NM_022807.2 transcript reference sequence.

112 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - likely benign g.25166183= g.24921036= - - SNRPN_000019 haplotype not associated with preferential maternal transmission (P=0.51) PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - 0.43 maternal transmission - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-?/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - likely benign g.25166183= g.24921036= - - SNRPN_000019 haplotype not associated with preferential maternal transmission (P=0.23) PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - 0.35 maternal transmission - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-?/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 haplotype associated with preferential maternal transmission (P=0.06) PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - 0.8 maternal transmission - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-?/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - likely benign g.25166183= g.24921036= - - SNRPN_000019 haplotype not associated with preferential maternal transmission (P=0.18) PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - 0.8 maternal transmission - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-?/. - c.-391+912= r.(=) p.(=) H-AS6 Maternal (confirmed) - likely benign g.25166183= g.24921036= - - SNRPN_000019 haplotype not observed PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA PCR - - AS - PubMed: Zogel 2006, Journal: Zogel 2006 analysis transmission haplotypes in AS-ID patients - - - - - - - - 1 Johan den Dunnen
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam2 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam3 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam4 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam5 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam6 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam7 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam9 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam10 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam11 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam12 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam13 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam14 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam15 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam16 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam17 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam18 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam19 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam20 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam22 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam23 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam24 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam25 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam26 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam27 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam28 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam29 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam30 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam31 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam33 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam34 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam35 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam36 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam37 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam38 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam39 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam40 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam41 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam42 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam43 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam44 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam45 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam46 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam47 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - PubMed: Zogel 2006, Journal: Zogel 2006 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam48 cohort1 PubMed: Zogel 2006, Journal: Zogel 2006 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam49 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam50 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam51 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam52 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam53 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam54 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam56 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam57 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam58 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam59 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam60 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam61 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam62 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam63 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam65 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam66 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam67 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam68 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam69 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam70 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam71 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam73 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam74 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam75 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam76 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam77 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam78 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam79 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam80 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam81 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam82 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam83 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam84 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam85 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam87 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam88 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam90 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS3 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam91 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam93 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam94 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS5 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam95 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam96 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam97 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS2 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam98 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam99 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam100 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam101 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam102 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam103 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam104 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
-/. - c.-391+912= r.(=) p.(=) H-AS1 Maternal (confirmed) - benign g.25166183= g.24921036= - - SNRPN_000019 - Journal: Beygo 2020 - rs17114852 Germline - - - - - DNA SEQ - - AS Fam105 cohort2 Journal: Beygo 2020 analysis cases without deletion in Angelman syndrome imprinting center - - Germany - - - - - 1 Jasmin Beygo
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.