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rs587784482

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784482(C;T)
Make rs587784482(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185218
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784482
ebirs587784482
HLIrs587784482
Exacrs587784482
Varsomers587784482
Maprs587784482
PheGenIrs587784482
hapmaprs587784482
1000 genomesrs587784482
hgdprs587784482
ensemblrs587784482
gopubmedrs587784482
geneviewrs587784482
scholarrs587784482
googlers587784482
pharmgkbrs587784482
gwascentralrs587784482
openSNPrs587784482
23andMers587784482
23andMe allrs587784482
SNP Nexus

SNPshotrs587784482
SNPdbers587784482
MSV3drs587784482
GWAS Ctlgrs587784482
Max Magnitude0
ClinVar
Risk rs587784482(T;T)
Alt rs587784482(T;T)
Reference rs587784482(C;C)
Significance Pathogenic
Disease Lissencephaly 3 Abnormality of neuronal migration
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3 Abnormality of neuronal migration
Reversed 1
HGVS NC_000012.11:g.49579001G>A
CLNSRC
CLNACC RCV000147795.1, RCV000201372.1,