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: rs118192172
rs118192172
0.851 0.120 19 38457545 missense variant C/G;T snv 8.7E-05 1.1E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.720 1.000 0 1995 1999
dbSNP: rs118192172
rs118192172
0.851 0.120 19 38457545 missense variant C/G;T snv 8.7E-05 1.1E-04
Malignant hyperthermia susceptibility type 1
0.700 0