Source: CLINVAR

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: rs121908627
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0