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rs397514568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514568(A;G)
Make rs397514568(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position3225322
GeneTUBB2B
is asnp
is mentioned by
dbSNPrs397514568
dbSNP (classic)rs397514568
ClinGenrs397514568
ebirs397514568
HLIrs397514568
Exacrs397514568
Gnomadrs397514568
Varsomers397514568
LitVarrs397514568
Maprs397514568
PheGenIrs397514568
Biobankrs397514568
1000 genomesrs397514568
hgdprs397514568
ensemblrs397514568
geneviewrs397514568
scholarrs397514568
googlers397514568
pharmgkbrs397514568
gwascentralrs397514568
openSNPrs397514568
23andMers397514568
SNPshotrs397514568
SNPdbers397514568
MSV3drs397514568
GWAS Ctlgrs397514568
Max Magnitude0
ClinVar
Risk rs397514568(G;G)
Alt rs397514568(G;G)
Reference Rs397514568(A;A)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene TUBB2B
CLNDBN Polymicrogyria, asymmetric
Reversed 1
HGVS NC_000006.11:g.3225556T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032933.3,