Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517065
rs397517065
15 34792471 missense variant G/A snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.700 5 2008 2016
dbSNP: rs397517065
rs397517065
15 34792471 missense variant G/A snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2013 2013