rs118192175, RYR1

N. diseases: 3
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.
Malignant hyperthermia susceptibility type 1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
97 0.882 0.160 19 38494564 missense variant C/T snv 1.2E-05 0.700 0
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.882 0.160 19 38494564 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.882 0.160 19 38494564 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018