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: rs104894655
rs104894655
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2000 2000
dbSNP: rs104894655
rs104894655
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
0.700 0
dbSNP: rs104894655
rs104894655
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
Muscular Dystrophy, Limb-Girdle, Type 2G
0.700 0