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rs141542003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a mitochondrial disorder mutation (Complex I deficiency)
Make rs141542003(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position85636171
GeneTMEM126B
is asnp
is mentioned by
dbSNPrs141542003
dbSNP (old)rs141542003
ClinGenrs141542003
ebirs141542003
HLIrs141542003
Exacrs141542003
Gnomadrs141542003
Varsomers141542003
Maprs141542003
PheGenIrs141542003
Biobankrs141542003
1000 genomesrs141542003
hgdprs141542003
ensemblrs141542003
gopubmedrs141542003
geneviewrs141542003
scholarrs141542003
googlers141542003
pharmgkbrs141542003
gwascentralrs141542003
openSNPrs141542003
23andMers141542003
23andMe allrs141542003
SNPshotrs141542003
SNPdbers141542003
MSV3drs141542003
GWAS Ctlgrs141542003
Max Magnitude3

[PMID 27374774OA-icon.png] Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype


ClinVar
Risk rs141542003(T;T)
Alt rs141542003(T;T)
Reference Rs141542003(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency Mitochondrial diseases
Variation info
Gene TMEM126B
CLNDBN Mitochondrial complex I deficiency Mitochondrial diseases
Reversed 0
HGVS NC_000011.9:g.85347215G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239528.1, RCV000240617.1,