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rs863224939

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224939(A;C)
Make rs863224939(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position3154329
GeneTUBB2A
is asnp
is mentioned by
dbSNPrs863224939
ebirs863224939
HLIrs863224939
Exacrs863224939
Varsomers863224939
Maprs863224939
PheGenIrs863224939
hapmaprs863224939
1000 genomesrs863224939
hgdprs863224939
ensemblrs863224939
gopubmedrs863224939
geneviewrs863224939
scholarrs863224939
googlers863224939
pharmgkbrs863224939
gwascentralrs863224939
openSNPrs863224939
23andMers863224939
23andMe allrs863224939
SNP Nexus

SNPshotrs863224939
SNPdbers863224939
MSV3drs863224939
GWAS Ctlgrs863224939
Max Magnitude0
ClinVar
Risk rs863224939(C;C)
Alt rs863224939(C;C)
Reference rs863224939(A;A)
Significance Probable-Pathogenic
Disease Cortical dysplasia
Variation info
Gene TUBB2A
CLNDBN Cortical dysplasia, complex, with other brain malformations 5
Reversed 1
HGVS NC_000006.11:g.3154563T>G
CLNSRC
CLNACC RCV000195901.1,