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: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		0.700 1.000 7 2010 2017
dbSNP: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2010 2017
dbSNP: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 		0.700 1.000 7 2010 2017
dbSNP: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2010 2010