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rs587784492

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784492(A;G)
Make rs587784492(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185668
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784492
ebirs587784492
HLIrs587784492
Exacrs587784492
Varsomers587784492
Maprs587784492
PheGenIrs587784492
hapmaprs587784492
1000 genomesrs587784492
hgdprs587784492
ensemblrs587784492
gopubmedrs587784492
geneviewrs587784492
scholarrs587784492
googlers587784492
pharmgkbrs587784492
gwascentralrs587784492
openSNPrs587784492
23andMers587784492
23andMe allrs587784492
SNP Nexus

SNPshotrs587784492
SNPdbers587784492
MSV3drs587784492
GWAS Ctlgrs587784492
Max Magnitude0
ClinVar
Risk rs587784492(G;G)
Alt rs587784492(G;G)
Reference rs587784492(A;A)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579451T>C
CLNSRC
CLNACC RCV000147816.1,