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: rs199476401
rs199476401
0.878 10 68121896 missense variant A/C,G snp 4.0E-06 9.6E-05
CUI: C3714995
Disease: CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, DILATED, 1KK
0.800 1 2012 2012
dbSNP: rs199476401
rs199476401
0.878 10 68121896 missense variant A/C,G snp 4.0E-06 9.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2015 2015