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rs397514567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514567(A;A)
Make rs397514567(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position3224840
GeneTUBB2B
is asnp
is mentioned by
dbSNPrs397514567
ebirs397514567
HLIrs397514567
Exacrs397514567
Varsomers397514567
Maprs397514567
PheGenIrs397514567
hapmaprs397514567
1000 genomesrs397514567
hgdprs397514567
ensemblrs397514567
gopubmedrs397514567
geneviewrs397514567
scholarrs397514567
googlers397514567
pharmgkbrs397514567
gwascentralrs397514567
openSNPrs397514567
23andMers397514567
23andMe allrs397514567
SNP Nexus

SNPshotrs397514567
SNPdbers397514567
MSV3drs397514567
GWAS Ctlgrs397514567
Max Magnitude0
ClinVar
Risk rs397514567(A;A)
Alt rs397514567(A;A)
Reference rs397514567(G;G)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene TUBB2B
CLNDBN Polymicrogyria, asymmetric
Reversed 1
HGVS NC_000006.11:g.3225074C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032932.3,