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rs397514569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514569(C;C)
Make rs397514569(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position3225739
GeneTUBB2B
is asnp
is mentioned by
dbSNPrs397514569
ebirs397514569
HLIrs397514569
Exacrs397514569
Varsomers397514569
Maprs397514569
PheGenIrs397514569
hapmaprs397514569
1000 genomesrs397514569
hgdprs397514569
ensemblrs397514569
gopubmedrs397514569
geneviewrs397514569
scholarrs397514569
googlers397514569
pharmgkbrs397514569
gwascentralrs397514569
openSNPrs397514569
23andMers397514569
23andMe allrs397514569
SNP Nexus

SNPshotrs397514569
SNPdbers397514569
MSV3drs397514569
GWAS Ctlgrs397514569
Max Magnitude0
ClinVar
Risk rs397514569(C;C)
Alt rs397514569(C;C)
Reference rs397514569(T;T)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene TUBB2B
CLNDBN Polymicrogyria, asymmetric
Reversed 1
HGVS NC_000006.11:g.3225973A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032934.3,