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rs121913661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913661(A;A)
Make rs121913661(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position67610510
GeneNDUFV1
is asnp
is mentioned by
dbSNPrs121913661
dbSNP (classic)rs121913661
ClinGenrs121913661
ebirs121913661
HLIrs121913661
Exacrs121913661
Gnomadrs121913661
Varsomers121913661
LitVarrs121913661
Maprs121913661
PheGenIrs121913661
Biobankrs121913661
1000 genomesrs121913661
hgdprs121913661
ensemblrs121913661
geneviewrs121913661
scholarrs121913661
googlers121913661
pharmgkbrs121913661
gwascentralrs121913661
openSNPrs121913661
23andMers121913661
SNPshotrs121913661
SNPdbers121913661
MSV3drs121913661
GWAS Ctlgrs121913661
Max Magnitude0
OMIM161015
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913661(A;A)
Alt rs121913661(A;A)
Reference Rs121913661(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFV1
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.67377981G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015103.26,