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rs587777585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777585(C;T)
Make rs587777585(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position30918851
GeneVARS2
is asnp
is mentioned by
dbSNPrs587777585
ebirs587777585
HLIrs587777585
Exacrs587777585
Varsomers587777585
Maprs587777585
PheGenIrs587777585
hapmaprs587777585
1000 genomesrs587777585
hgdprs587777585
ensemblrs587777585
gopubmedrs587777585
geneviewrs587777585
scholarrs587777585
googlers587777585
pharmgkbrs587777585
gwascentralrs587777585
openSNPrs587777585
23andMers587777585
23andMe allrs587777585
SNP Nexus

SNPshotrs587777585
SNPdbers587777585
MSV3drs587777585
GWAS Ctlgrs587777585
Max Magnitude0
ClinVar
Risk rs587777585(T;T)
Alt rs587777585(T;T)
Reference rs587777585(C;C)
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.30886628C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000129937.4,