rs199476317, TPM1

N. diseases: 4
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, 1y
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
4 0.827 0.080 15 63062263 missense variant G/A snv 0.700 1.000 7 2010 2017
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
6 0.827 0.080 15 63062263 missense variant G/A snv 0.700 1.000 7 2010 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.827 0.080 15 63062263 missense variant G/A snv 0.700 1.000 7 2010 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
443 0.827 0.080 15 63062263 missense variant G/A snv 0.700 1.000 1 2010 2010