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rs863224938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224938(A;A)
Make rs863224938(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49186333
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs863224938
dbSNP (classic)rs863224938
ClinGenrs863224938
ebirs863224938
HLIrs863224938
Exacrs863224938
Gnomadrs863224938
Varsomers863224938
LitVarrs863224938
Maprs863224938
PheGenIrs863224938
Biobankrs863224938
1000 genomesrs863224938
hgdprs863224938
ensemblrs863224938
geneviewrs863224938
scholarrs863224938
googlers863224938
pharmgkbrs863224938
gwascentralrs863224938
openSNPrs863224938
23andMers863224938
SNPshotrs863224938
SNPdbers863224938
MSV3drs863224938
GWAS Ctlgrs863224938
Max Magnitude0
ClinVar
Risk rs863224938(A;A)
Alt rs863224938(A;A)
Reference Rs863224938(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49580116C>T
CLNSRC
CLNACC RCV000199824.1,