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rs587784491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784491(A;A)
Make rs587784491(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49186832
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs587784491
dbSNP (classic)rs587784491
ClinGenrs587784491
ebirs587784491
HLIrs587784491
Exacrs587784491
Gnomadrs587784491
Varsomers587784491
LitVarrs587784491
Maprs587784491
PheGenIrs587784491
Biobankrs587784491
1000 genomesrs587784491
hgdprs587784491
ensemblrs587784491
geneviewrs587784491
scholarrs587784491
googlers587784491
pharmgkbrs587784491
gwascentralrs587784491
openSNPrs587784491
23andMers587784491
SNPshotrs587784491
SNPdbers587784491
MSV3drs587784491
GWAS Ctlgrs587784491
Max Magnitude0
ClinVar
Risk rs587784491(A;A)
Alt rs587784491(A;A)
Reference Rs587784491(G;G)
Significance Pathogenic
Disease Lissencephaly 3 Inborn genetic diseases not provided
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3 Inborn genetic diseases not provided
Reversed 1
HGVS NC_000012.11:g.49580615C>T
CLNSRC
CLNACC RCV000147815.1, RCV000190671.1, RCV000494655.1,