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: rs267606894
rs267606894
CYTB ; ND5
1.000 0.200 MT 12770 missense variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 4 1997 2007
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 4 1997 2007
dbSNP: rs267606897
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 4 1997 2007
dbSNP: rs267606898
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 4 1997 2007
dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
0.925 0.200 MT 14453 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 1 2001 2001
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
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