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rs587777332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777332(A;A)
Make rs587777332(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position49100049
GeneMIR6890, QARS
is asnp
is mentioned by
dbSNPrs587777332
ebirs587777332
HLIrs587777332
Exacrs587777332
Varsomers587777332
Maprs587777332
PheGenIrs587777332
hapmaprs587777332
1000 genomesrs587777332
hgdprs587777332
ensemblrs587777332
gopubmedrs587777332
geneviewrs587777332
scholarrs587777332
googlers587777332
pharmgkbrs587777332
gwascentralrs587777332
openSNPrs587777332
23andMers587777332
23andMe allrs587777332
SNP Nexus

SNPshotrs587777332
SNPdbers587777332
MSV3drs587777332
GWAS Ctlgrs587777332
Max Magnitude0
ClinVar
Risk rs587777332(A;A)
Alt rs587777332(A;A)
Reference rs587777332(G;G)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene QARS MIR6890
CLNDBN Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
Reversed 0
HGVS NC_000003.11:g.49137482G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114973.4,