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rs587784481

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784481(A;G)
Make rs587784481(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185237
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784481
ebirs587784481
HLIrs587784481
Exacrs587784481
Varsomers587784481
Maprs587784481
PheGenIrs587784481
hapmaprs587784481
1000 genomesrs587784481
hgdprs587784481
ensemblrs587784481
gopubmedrs587784481
geneviewrs587784481
scholarrs587784481
googlers587784481
pharmgkbrs587784481
gwascentralrs587784481
openSNPrs587784481
23andMers587784481
23andMe allrs587784481
SNP Nexus

SNPshotrs587784481
SNPdbers587784481
MSV3drs587784481
GWAS Ctlgrs587784481
Max Magnitude0
ClinVar
Risk rs587784481(G;G)
Alt rs587784481(G;G)
Reference rs587784481(A;A)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579020T>C
CLNSRC
CLNACC RCV000147794.1,