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rs587784494

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784494(G;T)
Make rs587784494(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185558
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784494
ebirs587784494
HLIrs587784494
Exacrs587784494
Varsomers587784494
Maprs587784494
PheGenIrs587784494
hapmaprs587784494
1000 genomesrs587784494
hgdprs587784494
ensemblrs587784494
gopubmedrs587784494
geneviewrs587784494
scholarrs587784494
googlers587784494
pharmgkbrs587784494
gwascentralrs587784494
openSNPrs587784494
23andMers587784494
23andMe allrs587784494
SNP Nexus

SNPshotrs587784494
SNPdbers587784494
MSV3drs587784494
GWAS Ctlgrs587784494
Max Magnitude0
ClinVar
Risk rs587784494(T;T)
Alt rs587784494(T;T)
Reference rs587784494(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579341C>A
CLNSRC
CLNACC RCV000147818.1,