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rs199476109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476109(C;C)
Make rs199476109(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position14487
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs199476109
ebirs199476109
HLIrs199476109
Exacrs199476109
Varsomers199476109
Maprs199476109
PheGenIrs199476109
hapmaprs199476109
1000 genomesrs199476109
hgdprs199476109
ensemblrs199476109
gopubmedrs199476109
geneviewrs199476109
scholarrs199476109
googlers199476109
pharmgkbrs199476109
gwascentralrs199476109
openSNPrs199476109
23andMers199476109
23andMe allrs199476109
SNP Nexus

SNPshotrs199476109
SNPdbers199476109
MSV3drs199476109
GWAS Ctlgrs199476109
Max Magnitude0
ClinVar
Risk rs199476109(C;C)
Alt rs199476109(C;C)
Reference rs199476109(T;T)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Striatal necrosis Leigh syndrome
Variation info
Gene ND6
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Striatal necrosis, bilateral, with dystonia Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.14487T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010333.2, RCV000010334.2, RCV000144020.2,