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rs121434428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434428(A;A)
Make rs121434428(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position161209915
GeneNDUFS2
is asnp
is mentioned by
dbSNPrs121434428
ebirs121434428
HLIrs121434428
Exacrs121434428
Varsomers121434428
Maprs121434428
PheGenIrs121434428
hapmaprs121434428
1000 genomesrs121434428
hgdprs121434428
ensemblrs121434428
gopubmedrs121434428
geneviewrs121434428
scholarrs121434428
googlers121434428
pharmgkbrs121434428
gwascentralrs121434428
openSNPrs121434428
23andMers121434428
23andMe allrs121434428
SNP Nexus

SNPshotrs121434428
SNPdbers121434428
MSV3drs121434428
GWAS Ctlgrs121434428
Max Magnitude0
OMIM602985
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434428(A;A)
Alt rs121434428(A;A)
Reference rs121434428(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS2
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000001.10:g.161179705C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007102.2,