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: rs201212638
rs201212638
ND1 ; ND2
1.000 0.200 MT 3398 missense variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1996 1996