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rs398123045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123045(C;C)
Make rs398123045(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42614845
GeneTUBG1
is asnp
is mentioned by
dbSNPrs398123045
ebirs398123045
HLIrs398123045
Exacrs398123045
Varsomers398123045
Maprs398123045
PheGenIrs398123045
hapmaprs398123045
1000 genomesrs398123045
hgdprs398123045
ensemblrs398123045
gopubmedrs398123045
geneviewrs398123045
scholarrs398123045
googlers398123045
pharmgkbrs398123045
gwascentralrs398123045
openSNPrs398123045
23andMers398123045
23andMe allrs398123045
SNP Nexus

SNPshotrs398123045
SNPdbers398123045
MSV3drs398123045
GWAS Ctlgrs398123045
Max Magnitude0
ClinVar
Risk rs398123045(C;C)
Alt rs398123045(C;C)
Reference rs398123045(T;T)
Significance Pathogenic
Disease Cortical dysplasia
Variation info
Gene TUBG1
CLNDBN Cortical dysplasia, complex, with other brain malformations 4
Reversed 0
HGVS NC_000017.10:g.40766863T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055620.15,