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rs199476117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476117(C;C)
Make rs199476117(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position10158
GeneMT-CO3
is asnp
is mentioned by
dbSNPrs199476117
ebirs199476117
HLIrs199476117
Exacrs199476117
Varsomers199476117
Maprs199476117
PheGenIrs199476117
hapmaprs199476117
1000 genomesrs199476117
hgdprs199476117
ensemblrs199476117
gopubmedrs199476117
geneviewrs199476117
scholarrs199476117
googlers199476117
pharmgkbrs199476117
gwascentralrs199476117
openSNPrs199476117
23andMers199476117
23andMe allrs199476117
SNP Nexus

SNPshotrs199476117
SNPdbers199476117
MSV3drs199476117
GWAS Ctlgrs199476117
Max Magnitude0
ClinVar
Risk rs199476117(C;C)
Alt rs199476117(C;C)
Reference rs199476117(T;T)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency Leigh syndrome not provided
Variation info
Gene ND3
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency Leigh syndrome not provided
Reversed 0
HGVS NC_012920.1:m.10158T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010360.2, RCV000010361.2, RCV000144009.2, RCV000224598.1,