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: rs118192162
rs118192162
0.851 0.120 19 38455359 missense variant A/C;G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.720 1.000 2 2003 2012
dbSNP: rs118192162
rs118192162
0.851 0.120 19 38455359 missense variant A/C;G snv
Malignant hyperthermia susceptibility type 1
0.700 0