Global Variome shared LOVD
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LOVD v.3.0 Build 21c [
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ID
Abbreviation
Name
OMIM ID
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
03347
AATD
alpha-1-antitrypsin deficiency (AATD)
613490
103
103
SERPINA1
-
-
02618
COPD
pulmonary disease, obstructive, chronic, susceptibility to (COPD)
606963
3
0
HMOX1, MMP1, SERPINA1
-
-
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LOVD v.3.0
Build 21c
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Leiden University Medical Center