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: rs587776441
rs587776441
ND1 ; TRNV
1.000 0.120 MT 1644 non coding transcript exon variant G/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 1997 1997