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rs587784485

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784485(C;T)
Make rs587784485(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49186685
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784485
ebirs587784485
HLIrs587784485
Exacrs587784485
Varsomers587784485
Maprs587784485
PheGenIrs587784485
hapmaprs587784485
1000 genomesrs587784485
hgdprs587784485
ensemblrs587784485
gopubmedrs587784485
geneviewrs587784485
scholarrs587784485
googlers587784485
pharmgkbrs587784485
gwascentralrs587784485
openSNPrs587784485
23andMers587784485
23andMe allrs587784485
SNP Nexus

SNPshotrs587784485
SNPdbers587784485
MSV3drs587784485
GWAS Ctlgrs587784485
Max Magnitude0
ClinVar
Risk rs587784485(T;T)
Alt rs587784485(T;T)
Reference rs587784485(C;C)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49580468G>A
CLNSRC
CLNACC RCV000147801.1,