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: rs118192178
rs118192178
0.882 0.120 19 38500898 missense variant C/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
0.800 0
dbSNP: rs118192178
rs118192178
0.882 0.120 19 38500898 missense variant C/G;T snv
Malignant hyperthermia susceptibility type 1
0.700 0