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rs587784497

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784497(C;C)
Make rs587784497(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185371
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784497
ebirs587784497
HLIrs587784497
Exacrs587784497
Varsomers587784497
Maprs587784497
PheGenIrs587784497
hapmaprs587784497
1000 genomesrs587784497
hgdprs587784497
ensemblrs587784497
gopubmedrs587784497
geneviewrs587784497
scholarrs587784497
googlers587784497
pharmgkbrs587784497
gwascentralrs587784497
openSNPrs587784497
23andMers587784497
23andMe allrs587784497
SNP Nexus

SNPshotrs587784497
SNPdbers587784497
MSV3drs587784497
GWAS Ctlgrs587784497
Max Magnitude0
ClinVar
Risk rs587784497(C;C)
Alt rs587784497(C;C)
Reference rs587784497(T;T)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579154A>G
CLNSRC
CLNACC RCV000147823.1,