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rs121913659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913659(C;T)
Make rs121913659(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position67612225
GeneNDUFV1
is asnp
is mentioned by
dbSNPrs121913659
dbSNP (classic)rs121913659
ClinGenrs121913659
ebirs121913659
HLIrs121913659
Exacrs121913659
Gnomadrs121913659
Varsomers121913659
LitVarrs121913659
Maprs121913659
PheGenIrs121913659
Biobankrs121913659
1000 genomesrs121913659
hgdprs121913659
ensemblrs121913659
geneviewrs121913659
scholarrs121913659
googlers121913659
pharmgkbrs121913659
gwascentralrs121913659
openSNPrs121913659
23andMers121913659
SNPshotrs121913659
SNPdbers121913659
MSV3drs121913659
GWAS Ctlgrs121913659
Max Magnitude0
OMIM161015
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913659(T;T)
Alt rs121913659(T;T)
Reference Rs121913659(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency not provided
Variation info
Gene NDUFV1
CLNDBN Mitochondrial complex I deficiency not provided
Reversed 0
HGVS NC_000011.9:g.67379696C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015100.23, RCV000200093.1,