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: rs267607004
rs267607004
0.923 0.036 10 110812304 missense variant G/A snp
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
0.700 9 2009 2017
dbSNP: rs267607004
rs267607004
0.923 0.036 10 110812304 missense variant G/A snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 4 2009 2014
dbSNP: rs267607004
rs267607004
0.923 0.036 10 110812304 missense variant G/A snp
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.700 1 2015 2015