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rs398123046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123046(A;G)
Make rs398123046(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42610535
GeneTUBG1
is asnp
is mentioned by
dbSNPrs398123046
ebirs398123046
HLIrs398123046
Exacrs398123046
Varsomers398123046
Maprs398123046
PheGenIrs398123046
hapmaprs398123046
1000 genomesrs398123046
hgdprs398123046
ensemblrs398123046
gopubmedrs398123046
geneviewrs398123046
scholarrs398123046
googlers398123046
pharmgkbrs398123046
gwascentralrs398123046
openSNPrs398123046
23andMers398123046
23andMe allrs398123046
SNP Nexus

SNPshotrs398123046
SNPdbers398123046
MSV3drs398123046
GWAS Ctlgrs398123046
Max Magnitude0
ClinVar
Risk rs398123046(G;G)
Alt rs398123046(G;G)
Reference rs398123046(A;A)
Significance Pathogenic
Disease Cortical dysplasia
Variation info
Gene FAM134C TUBG1
CLNDBN Cortical dysplasia, complex, with other brain malformations 4
Reversed 0
HGVS NC_000017.10:g.40762553A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055621.22,