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: rs193922748
rs193922748
0.925 0.120 19 38440829 missense variant C/T snv 4.1E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.700 1.000 20 1993 2017
dbSNP: rs193922748
rs193922748
0.925 0.120 19 38440829 missense variant C/T snv 4.1E-06
Malignant hyperthermia susceptibility type 1
0.700 1.000 20 1991 2015