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rs587776949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776949(-;-)
Make rs587776949(-;A)
ReferenceGRCh38 38.1/142
Chromosome5
Position53683155
GeneNDUFS4
is asnp
is mentioned by
dbSNPrs587776949
ebirs587776949
HLIrs587776949
Exacrs587776949
Varsomers587776949
Maprs587776949
PheGenIrs587776949
hapmaprs587776949
1000 genomesrs587776949
hgdprs587776949
ensemblrs587776949
gopubmedrs587776949
geneviewrs587776949
scholarrs587776949
googlers587776949
pharmgkbrs587776949
gwascentralrs587776949
openSNPrs587776949
23andMers587776949
23andMe allrs587776949
SNP Nexus

SNPshotrs587776949
SNPdbers587776949
MSV3drs587776949
GWAS Ctlgrs587776949
Max Magnitude0
ClinVar
Risk rs587776949(;)
Alt rs587776949(;)
Reference rs587776949(A;A)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency not provided
Variation info
Gene NDUFS4
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency not provided
Reversed 0
HGVS NC_000005.9:g.52978985delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033251.4, RCV000133549.2, RCV000197700.1,