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rs587777334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777334(A;A)
Make rs587777334(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position49099415
GeneMIR6890, QARS
is asnp
is mentioned by
dbSNPrs587777334
ebirs587777334
HLIrs587777334
Exacrs587777334
Varsomers587777334
Maprs587777334
PheGenIrs587777334
hapmaprs587777334
1000 genomesrs587777334
hgdprs587777334
ensemblrs587777334
gopubmedrs587777334
geneviewrs587777334
scholarrs587777334
googlers587777334
pharmgkbrs587777334
gwascentralrs587777334
openSNPrs587777334
23andMers587777334
23andMe allrs587777334
SNP Nexus

SNPshotrs587777334
SNPdbers587777334
MSV3drs587777334
GWAS Ctlgrs587777334
Max Magnitude0
ClinVar
Risk rs587777334(A,G;A,G)
Alt rs587777334(A,G;A,G)
Reference rs587777334(C;C)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene QARS MIR6890
CLNDBN Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
Reversed 1
HGVS NC_000003.11:g.49136848G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114975.4,