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rs199476105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476105(A;A)
Make rs199476105(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position14459
GeneND6
is asnp
is mentioned by
dbSNPrs199476105
dbSNP (classic)rs199476105
ClinGenrs199476105
ebirs199476105
HLIrs199476105
Exacrs199476105
Gnomadrs199476105
Varsomers199476105
LitVarrs199476105
Maprs199476105
PheGenIrs199476105
Biobankrs199476105
1000 genomesrs199476105
hgdprs199476105
ensemblrs199476105
geneviewrs199476105
scholarrs199476105
googlers199476105
pharmgkbrs199476105
gwascentralrs199476105
openSNPrs199476105
23andMers199476105
SNPshotrs199476105
SNPdbers199476105
MSV3drs199476105
GWAS Ctlgrs199476105
Max Magnitude0
ClinVar
Risk rs199476105(A;A)
Alt rs199476105(A;A)
Reference Rs199476105(G;G)
Significance Pathogenic
Disease Leber hereditary optic neuropathy with dystonia Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene ND6
CLNDBN Leber hereditary optic neuropathy with dystonia Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.14459G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010326.2, RCV000010327.2, RCV000010328.4, RCV000144019.2,