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rs587784488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784488(G;G)
Make rs587784488(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185885
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784488
dbSNP (classic)rs587784488
ClinGenrs587784488
ebirs587784488
HLIrs587784488
Exacrs587784488
Gnomadrs587784488
Varsomers587784488
LitVarrs587784488
Maprs587784488
PheGenIrs587784488
Biobankrs587784488
1000 genomesrs587784488
hgdprs587784488
ensemblrs587784488
geneviewrs587784488
scholarrs587784488
googlers587784488
pharmgkbrs587784488
gwascentralrs587784488
openSNPrs587784488
23andMers587784488
SNPshotrs587784488
SNPdbers587784488
MSV3drs587784488
GWAS Ctlgrs587784488
Max Magnitude0
ClinVar
Risk rs587784488(G;G)
Alt rs587784488(G;G)
Reference Rs587784488(T;T)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579668A>C
CLNSRC
CLNACC RCV000147810.1,