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rs587777583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777583(A;A)
Make rs587777583(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position30918886
GeneVARS2
is asnp
is mentioned by
dbSNPrs587777583
ebirs587777583
HLIrs587777583
Exacrs587777583
Varsomers587777583
Maprs587777583
PheGenIrs587777583
hapmaprs587777583
1000 genomesrs587777583
hgdprs587777583
ensemblrs587777583
gopubmedrs587777583
geneviewrs587777583
scholarrs587777583
googlers587777583
pharmgkbrs587777583
gwascentralrs587777583
openSNPrs587777583
23andMers587777583
23andMe allrs587777583
SNP Nexus

SNPshotrs587777583
SNPdbers587777583
MSV3drs587777583
GWAS Ctlgrs587777583
Max Magnitude0
ClinVar
Risk rs587777583(A;A)
Alt rs587777583(A;A)
Reference rs587777583(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 20
Variation info
Gene VARS2
CLNDBN Combined oxidative phosphorylation deficiency 20
Reversed 0
HGVS NC_000006.11:g.30886663G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000129933.3,