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rs587777333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777333(A;G)
Make rs587777333(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position49104420
GeneQARS
is asnp
is mentioned by
dbSNPrs587777333
ebirs587777333
HLIrs587777333
Exacrs587777333
Varsomers587777333
Maprs587777333
PheGenIrs587777333
hapmaprs587777333
1000 genomesrs587777333
hgdprs587777333
ensemblrs587777333
gopubmedrs587777333
geneviewrs587777333
scholarrs587777333
googlers587777333
pharmgkbrs587777333
gwascentralrs587777333
openSNPrs587777333
23andMers587777333
23andMe allrs587777333
SNP Nexus

SNPshotrs587777333
SNPdbers587777333
MSV3drs587777333
GWAS Ctlgrs587777333
Max Magnitude0
ClinVar
Risk rs587777333(G;G)
Alt rs587777333(G;G)
Reference rs587777333(A;A)
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.49141853A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000114974.4,