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rs878853279

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853279(A;G)
Make rs878853279(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89935613
GeneTUBB3
is asnp
is mentioned by
dbSNPrs878853279
ebirs878853279
HLIrs878853279
Exacrs878853279
Varsomers878853279
Maprs878853279
PheGenIrs878853279
hapmaprs878853279
1000 genomesrs878853279
hgdprs878853279
ensemblrs878853279
gopubmedrs878853279
geneviewrs878853279
scholarrs878853279
googlers878853279
pharmgkbrs878853279
gwascentralrs878853279
openSNPrs878853279
23andMers878853279
23andMe allrs878853279
SNP Nexus

SNPshotrs878853279
SNPdbers878853279
MSV3drs878853279
GWAS Ctlgrs878853279
Max Magnitude0
ClinVar
Risk rs878853279(G;G)
Alt rs878853279(G;G)
Reference rs878853279(A;A)
Significance Pathogenic
Disease Cortical dysplasia
Variation info
Gene TUBB3
CLNDBN Cortical dysplasia, complex, with other brain malformations 1
Reversed 0
HGVS NC_000016.9:g.90002021A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000225239.1,