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rs797046072

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797046072(A;G)
Make rs797046072(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49186416
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs797046072
ebirs797046072
HLIrs797046072
Exacrs797046072
Varsomers797046072
Maprs797046072
PheGenIrs797046072
hapmaprs797046072
1000 genomesrs797046072
hgdprs797046072
ensemblrs797046072
gopubmedrs797046072
geneviewrs797046072
scholarrs797046072
googlers797046072
pharmgkbrs797046072
gwascentralrs797046072
openSNPrs797046072
23andMers797046072
23andMe allrs797046072
SNP Nexus

SNPshotrs797046072
SNPdbers797046072
MSV3drs797046072
GWAS Ctlgrs797046072
Max Magnitude0
ClinVar
Risk rs797046072(G;G)
Alt rs797046072(G;G)
Reference rs797046072(A;A)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49580199T>C
CLNSRC
CLNACC RCV000194237.1,