rs199476305, TPM1

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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 1.000 0.040 15 63044096 missense variant G/C snv 0.710 1.000 1 2005 2005
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 1.000 0.040 15 63044096 missense variant G/C snv 0.010 1.000 1 2018 2018