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rs587784483

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784483(A;A)
Make rs587784483(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185162
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784483
ebirs587784483
HLIrs587784483
Exacrs587784483
Varsomers587784483
Maprs587784483
PheGenIrs587784483
hapmaprs587784483
1000 genomesrs587784483
hgdprs587784483
ensemblrs587784483
gopubmedrs587784483
geneviewrs587784483
scholarrs587784483
googlers587784483
pharmgkbrs587784483
gwascentralrs587784483
openSNPrs587784483
23andMers587784483
23andMe allrs587784483
SNP Nexus

SNPshotrs587784483
SNPdbers587784483
MSV3drs587784483
GWAS Ctlgrs587784483
Max Magnitude0
ClinVar
Risk rs587784483(A,T;A,T)
Alt rs587784483(A,T;A,T)
Reference rs587784483(C;C)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578945G>A; NC_000012.11:g.49578945G>T
CLNSRC
CLNACC RCV000147798.2, RCV000147797.1,