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rs2808001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2808001(A;A)
Make rs2808001(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position3154458
GeneTUBB2A
is asnp
is mentioned by
dbSNPrs2808001
dbSNP (classic)rs2808001
ClinGenrs2808001
ebirs2808001
HLIrs2808001
Exacrs2808001
Gnomadrs2808001
Varsomers2808001
LitVarrs2808001
Maprs2808001
PheGenIrs2808001
Biobankrs2808001
1000 genomesrs2808001
hgdprs2808001
ensemblrs2808001
geneviewrs2808001
scholarrs2808001
googlers2808001
pharmgkbrs2808001
gwascentralrs2808001
openSNPrs2808001
23andMers2808001
SNPshotrs2808001
SNPdbers2808001
MSV3drs2808001
GWAS Ctlgrs2808001
Merged fromRs587777324
Max Magnitude0
ClinVar
Risk rs2808001(A;A)
Alt rs2808001(A;A)
Reference Rs2808001(G;G)
Significance Pathogenic
Disease Cortical dysplasia not specified not provided
Variation info
Gene TUBB2A
CLNDBN Cortical dysplasia, complex, with other brain malformations 5 not specified not provided
Reversed 0
HGVS NC_000006.11:g.3154692G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114959.2, RCV000202934.1, RCV000254754.1,