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: rs74315380
rs74315380
0.851 0.080 1 201364366 missense variant G/A;C snv
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.800 1.000 7 2000 2017
dbSNP: rs74315380
rs74315380
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.720 1.000 6 2003 2016
dbSNP: rs74315380
rs74315380
0.851 0.080 1 201364366 missense variant G/A;C snv
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 1.000 7 2004 2013
dbSNP: rs74315380
rs74315380
0.851 0.080 1 201364366 missense variant G/A;C snv
Cardiomyopathy, Familial Hypertrophic, 2
0.700 1.000 7 2004 2013