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: rs199476113
rs199476113
ND4 ; ND4L ; ND5
1.000 0.200 MT 11084 missense variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1992 1992