Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434479(A;A)
Make rs121434479(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1391144
GeneNDUFS7
is asnp
is mentioned by
dbSNPrs121434479
ebirs121434479
HLIrs121434479
Exacrs121434479
Varsomers121434479
Maprs121434479
PheGenIrs121434479
hapmaprs121434479
1000 genomesrs121434479
hgdprs121434479
ensemblrs121434479
gopubmedrs121434479
geneviewrs121434479
scholarrs121434479
googlers121434479
pharmgkbrs121434479
gwascentralrs121434479
openSNPrs121434479
23andMers121434479
23andMe allrs121434479
SNP Nexus

SNPshotrs121434479
SNPdbers121434479
MSV3drs121434479
GWAS Ctlgrs121434479
Max Magnitude0
OMIM601825
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434479(A;A)
Alt rs121434479(A;A)
Reference rs121434479(G;G)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFS7
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_000019.9:g.1391143G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008121.2,