Leigh Syndrome
Other
479 variants
28 genes
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Associated Genes (28)
NDUFV1
MT-ND5
MT-ND4
MT-ND3
MT-ND1
covers 22 genes, none of which curated to show dosage sensitivity
SURF1
MTFMT
MT-ATP6
NDUFS4
FBXL4
FOXRED1
COX10
NDUFS1
MT-TK
NDUFAF2
BCS1L
NDUFS8
NDUFS7
SDHA
MT-TV
MT-TW
MT-TL1
MT-CO3
MT-CO1
MT-CYB
MT-ND6
MT-ND5;MT-ND6
Associated Variants (479)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS121913660
NDUFV1
—
—
strong
RS267606897
MT-ND5
—
—
strong
RS28384199
MT-ND4
—
—
strong
RS267606890
MT-ND3
—
—
strong
RS199476117
MT-ND3
—
—
strong
RS267606891
MT-ND3
—
—
strong
RS199476118
MT-ND1
—
—
strong
RS199476123
covers 22 genes, none of which curated to show dosage sensitivity
—
—
strong
RS121918657
SURF1
—
—
strong
RS28933402
SURF1
—
—
strong
RS782316919
SURF1
—
—
strong
RS121913659
NDUFV1
—
—
strong
RS768050261
NDUFV1
—
—
strong
RS267606893
MT-ND5
—
—
strong
RS121913661
NDUFV1
—
—
strong
RS201431517
MTFMT
—
—
strong
RS1556423632
MT-ATP6
—
—
strong
RS587776949
NDUFS4
—
—
strong
RS201889294
FBXL4
—
—
strong
RS398123061
FBXL4
—
—
strong
RS398124308
FOXRED1
—
—
strong
RS62052075
COX10
—
—
strong
RS146175179
COX10
—
—
strong
RS111541535
COX10
—
—
strong
RS2470066855
NDUFS1
—
—
strong
RS118192098
MT-TK
—
—
strong
RS137852863
NDUFAF2
—
—
strong
RS121908576
BCS1L
—
—
strong
RS121908577
BCS1L
—
—
strong
RS1445075330
NDUFS4
—
—
strong
RS121908985
NDUFS4
—
—
strong
RS104893898
NDUFS4
—
—
strong
RS28939679
NDUFS8
—
—
strong
RS104894705
NDUFS7
—
—
strong
RS1568985256
NDUFS7
—
—
strong
RS9809219
SDHA
—
—
strong
RS199476144
MT-TV
—
—
strong
RS199474672
MT-TW
—
—
strong
RS267606829
FOXRED1
—
—
strong
RS118192100
MT-TK
—
—
strong
RS199474657
MT-TL1
—
—
strong
RS199476133
MT-ATP6
—
—
strong
RS199476135
MT-ATP6
—
—
strong
RS199476138
MT-ATP6
—
—
strong
RS267606614
MT-CO3
—
—
strong
RS199476128
MT-CO1
—
—
strong
RS207459999
MT-CYB
—
—
strong
RS199476104
MT-ND6
—
—
strong
RS199476105
MT-ND5;MT-ND6
—
—
strong
RS199476109
MT-ND6
—
—
strong
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