Source: UNIPROT

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: rs118192153
rs118192153
0.925 0.120 19 38585013 missense variant C/G;T snv 1.2E-05; 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.800 1.000 2 2012 2012
dbSNP: rs118192153
rs118192153
0.925 0.120 19 38585013 missense variant C/G;T snv 1.2E-05; 4.0E-06
Malignant hyperthermia susceptibility type 1
0.700 0