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rs797045005

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045005(C;C)
Make rs797045005(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49185140
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs797045005
ebirs797045005
HLIrs797045005
Exacrs797045005
Varsomers797045005
Maprs797045005
PheGenIrs797045005
hapmaprs797045005
1000 genomesrs797045005
hgdprs797045005
ensemblrs797045005
gopubmedrs797045005
geneviewrs797045005
scholarrs797045005
googlers797045005
pharmgkbrs797045005
gwascentralrs797045005
openSNPrs797045005
23andMers797045005
23andMe allrs797045005
SNP Nexus

SNPshotrs797045005
SNPdbers797045005
MSV3drs797045005
GWAS Ctlgrs797045005
Max Magnitude0
ClinVar
Risk rs797045005(C;C)
Alt rs797045005(C;C)
Reference rs797045005(T;T)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578923A>G
CLNSRC
CLNACC RCV000190503.1,