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
0.923 0.143 17 39665762 stop gained C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2000 2000
dbSNP: rs104894655
rs104894655
0.923 0.143 17 39665762 stop gained C/T snp
Muscular Dystrophy, Limb-Girdle, Type 2G
0.700 1 2000 2000
dbSNP: rs104894655
rs104894655
0.923 0.143 17 39665762 stop gained C/T snp
CUI: C1843791
Disease: CARDIOMYOPATHY, DILATED, 1N
CARDIOMYOPATHY, DILATED, 1N
0.700 0