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rs587784495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784495(A;G)
Make rs587784495(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49185380
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784495
dbSNP (classic)rs587784495
ClinGenrs587784495
ebirs587784495
HLIrs587784495
Exacrs587784495
Gnomadrs587784495
Varsomers587784495
LitVarrs587784495
Maprs587784495
PheGenIrs587784495
Biobankrs587784495
1000 genomesrs587784495
hgdprs587784495
ensemblrs587784495
geneviewrs587784495
scholarrs587784495
googlers587784495
pharmgkbrs587784495
gwascentralrs587784495
openSNPrs587784495
23andMers587784495
SNPshotrs587784495
SNPdbers587784495
MSV3drs587784495
GWAS Ctlgrs587784495
Max Magnitude0
ClinVar
Risk rs587784495(G;G)
Alt rs587784495(G;G)
Reference Rs587784495(A;A)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579163T>C
CLNSRC
CLNACC RCV000147821.1,