rs199474815, MYL2

N. diseases: 2
Source: ALL
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, FAMILIAL HYPERTROPHIC, 10
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
11 0.925 0.080 12 110911081 missense variant T/A snv 0.700 1.000 6 1996 2003
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.925 0.080 12 110911081 missense variant T/A snv 0.010 1.000 1 2019 2019