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rs587777356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777356(A;A)
Make rs587777356(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position30724119
GeneTUBB
is asnp
is mentioned by
dbSNPrs587777356
dbSNP (classic)rs587777356
ClinGenrs587777356
ebirs587777356
HLIrs587777356
Exacrs587777356
Gnomadrs587777356
Varsomers587777356
LitVarrs587777356
Maprs587777356
PheGenIrs587777356
Biobankrs587777356
1000 genomesrs587777356
hgdprs587777356
ensemblrs587777356
geneviewrs587777356
scholarrs587777356
googlers587777356
pharmgkbrs587777356
gwascentralrs587777356
openSNPrs587777356
23andMers587777356
SNPshotrs587777356
SNPdbers587777356
MSV3drs587777356
GWAS Ctlgrs587777356
Max Magnitude0
ClinVar
Risk rs587777356(A;A)
Alt rs587777356(A;A)
Reference Rs587777356(G;G)
Significance Pathogenic
Disease Cortical dysplasia
Variation info
Gene TUBB
CLNDBN Cortical dysplasia, complex, with other brain malformations 6
Reversed 0
HGVS NC_000006.11:g.30691896G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000115019.3,