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rs587777331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777331(A;A)
Make rs587777331(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position49104455
GeneQARS
is asnp
is mentioned by
dbSNPrs587777331
ebirs587777331
HLIrs587777331
Exacrs587777331
Varsomers587777331
Maprs587777331
PheGenIrs587777331
hapmaprs587777331
1000 genomesrs587777331
hgdprs587777331
ensemblrs587777331
gopubmedrs587777331
geneviewrs587777331
scholarrs587777331
googlers587777331
pharmgkbrs587777331
gwascentralrs587777331
openSNPrs587777331
23andMers587777331
23andMe allrs587777331
SNP Nexus

SNPshotrs587777331
SNPdbers587777331
MSV3drs587777331
GWAS Ctlgrs587777331
Max Magnitude0
ClinVar
Risk rs587777331(A;A)
Alt rs587777331(A;A)
Reference rs587777331(C;C)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene QARS
CLNDBN Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
Reversed 0
HGVS NC_000003.11:g.49141888C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114972.3,