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rs398123047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123047(A;C)
Make rs398123047(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position42614407
GeneTUBG1
is asnp
is mentioned by
dbSNPrs398123047
ebirs398123047
HLIrs398123047
Exacrs398123047
Varsomers398123047
Maprs398123047
PheGenIrs398123047
hapmaprs398123047
1000 genomesrs398123047
hgdprs398123047
ensemblrs398123047
gopubmedrs398123047
geneviewrs398123047
scholarrs398123047
googlers398123047
pharmgkbrs398123047
gwascentralrs398123047
openSNPrs398123047
23andMers398123047
23andMe allrs398123047
SNP Nexus

SNPshotrs398123047
SNPdbers398123047
MSV3drs398123047
GWAS Ctlgrs398123047
Max Magnitude0
ClinVar
Risk rs398123047(C;C)
Alt rs398123047(C;C)
Reference rs398123047(A;A)
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.40766425A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055622.22,