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rs797046073

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046073(C;C)
Make rs797046073(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49185396
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs797046073
ebirs797046073
HLIrs797046073
Exacrs797046073
Varsomers797046073
Maprs797046073
PheGenIrs797046073
hapmaprs797046073
1000 genomesrs797046073
hgdprs797046073
ensemblrs797046073
gopubmedrs797046073
geneviewrs797046073
scholarrs797046073
googlers797046073
pharmgkbrs797046073
gwascentralrs797046073
openSNPrs797046073
23andMers797046073
23andMe allrs797046073
SNP Nexus

SNPshotrs797046073
SNPdbers797046073
MSV3drs797046073
GWAS Ctlgrs797046073
Max Magnitude0
ClinVar
Risk rs797046073(C;C)
Alt rs797046073(C;C)
Reference rs797046073(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579179C>G
CLNSRC
CLNACC RCV000194600.1,