rs199474703, MYL3

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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 1.000 4 2008 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 1.000 1 2016 2016
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 0
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
6 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 0