All genomic variants

375628 entries on 3757 pages. Showing entries 1 - 100.
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Variant ID

Effect

Chr

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

Owner
0000000001 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000002 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000003 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000005 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000006 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000007 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000008 ?/. 1 g.76199277A>C - - - ACADM_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000009 ?/. 1 g.76198571C>T - - - ACADM_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000010 ?/. 1 g.76226846A>G - - - ACADM_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000013 ?/. 1 g.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
0000000015 ?/. 1 g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
0000000016 ?/. 1 g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
0000000017 ?/. 1 g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
0000000018 ?/. 1 g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
0000000019 ?/. 1 g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
0000000021 ?/. 1 g.21887209C>T - - - ALPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000022 ?/. 1 g.21889760G>A - - - ALPL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000026 ?/. 1 g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000028 ?/. 1 g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000029 ?/. 1 g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000030 ?/. 1 g.197070442G>T g.197101312G>T - - ASPM_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
0000000032 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000034 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000035 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000036 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000037 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000038 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000039 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000040 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000041 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000042 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000043 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000044 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000045 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000046 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000047 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000048 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000049 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000050 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000051 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000052 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000053 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000054 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000055 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000056 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000057 ?/. 1 g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000058 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000059 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000060 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000061 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000062 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000063 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000064 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000065 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000066 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000067 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000068 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000071 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000072 ?/. 1 g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000073 ?/. 1 g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000074 ?/. 1 g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000075 ?/. 1 g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000076 ?/. 1 g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000077 ?/. 1 g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000078 ?/. 1 g.97547947T>A g.97082391T>A - - DPYD_000004 - - - rs67376798 Germline - - - 0 - Gerard C.P. Schaafsma
0000000079 ?/. 1 g.98165030T>C g.97699474T>C - - DPYD_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000080 ?/. 1 g.155206060C>T g.155236269C>T - - GBA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000081 ?/. 1 g.155205043A>C g.155235252A>C - - GBA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000082 ?/. 1 g.155206089C>G g.155236298C>G - - GBA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000083 ?/. 1 g.155210452_155210453insC g.155240661_155240662insC - - GBA_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000084 ?/. 1 g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000085 ?/. 1 g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000086 ?/. 1 g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000087 ?/. 1 g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000088 ?/. 1 g.155205043A>G g.155235252A>G - - GBA_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000089 ?/. 1 g.155205499G>C g.155235708G>C - - GBA_000007 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000090 ?/. 1 g.155210420C>T g.155240629C>T INTRON 2, IVS2+1G>A, CHR1:153477044G>A - GBA_000008 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000091 ?/. 1 g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000092 ?/. 1 g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000093 ?/. 1 g.43225040G>A g.42759369G>A - - P3H1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000094 ?/. 1 g.235993601_235993602insC - - - LYST_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000095 ?/. 1 g.235969126G>A - - - LYST_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000096 ?/. 1 g.235884132_235884144del - - - LYST_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000097 ?/. 1 g.45973217_45973218insA g.45507545_45507546insA - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000098 ?/. 1 g.45973217_45973218insA g.45507545_45507546insA - - MMACHC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000099 ?/. 1 g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000100 ?/. 1 g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000101 ?/. 1 g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000102 ?/. 1 g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000103 ?/. 1 g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000104 ?/. 1 g.43804340G>A g.43338669G>A - - MPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000105 ?/. 1 g.43804235_43804236del g.43338564_43338565del - - MPL_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000106 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000107 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000108 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000109 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000110 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000112 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000113 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
0000000114 ?/. 1 g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
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