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: rs397517689
rs397517689
0.923 0.036 2 178574530 stop gained G/A snp 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 4 2012 2016
dbSNP: rs397517689
rs397517689
0.923 0.036 2 178574530 stop gained G/A snp 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.700 1 2015 2015
dbSNP: rs397517689
rs397517689
0.923 0.036 2 178574530 stop gained G/A snp 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 1 2017 2017