rs104894655, TCAP

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
443 0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 0.700 1.000 1 2000 2000
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
5 0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 0.700 0
Muscular Dystrophy, Limb-Girdle, Type 2G
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
5 0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 0.700 0