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rs121908985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908985(-;-)
Make rs121908985(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position53646346
GeneNDUFS4
is asnp
is mentioned by
dbSNPrs121908985
ebirs121908985
HLIrs121908985
Exacrs121908985
Varsomers121908985
Maprs121908985
PheGenIrs121908985
hapmaprs121908985
1000 genomesrs121908985
hgdprs121908985
ensemblrs121908985
gopubmedrs121908985
geneviewrs121908985
scholarrs121908985
googlers121908985
pharmgkbrs121908985
gwascentralrs121908985
openSNPrs121908985
23andMers121908985
23andMe allrs121908985
SNP Nexus

SNPshotrs121908985
SNPdbers121908985
MSV3drs121908985
GWAS Ctlgrs121908985
Max Magnitude0
OMIM602694
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908985(;)
Alt rs121908985(;)
Reference rs121908985(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS4
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000005.9:g.52942176delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007291.2,