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rs587784505

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784505(A;A)
Make rs587784505(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89934743
GeneTUBB3
is asnp
is mentioned by
dbSNPrs587784505
ebirs587784505
HLIrs587784505
Exacrs587784505
Varsomers587784505
Maprs587784505
PheGenIrs587784505
hapmaprs587784505
1000 genomesrs587784505
hgdprs587784505
ensemblrs587784505
gopubmedrs587784505
geneviewrs587784505
scholarrs587784505
googlers587784505
pharmgkbrs587784505
gwascentralrs587784505
openSNPrs587784505
23andMers587784505
23andMe allrs587784505
SNP Nexus

SNPshotrs587784505
SNPdbers587784505
MSV3drs587784505
GWAS Ctlgrs587784505
Max Magnitude0
ClinVar
Risk rs587784505(A;A)
Alt rs587784505(A;A)
Reference rs587784505(G;G)
Significance Pathogenic
Disease Cortical dysplasia Fibrosis of extraocular muscles
Variation info
Gene TUBB3
CLNDBN Cortical dysplasia, complex, with other brain malformations 1 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Reversed 0
HGVS NC_000016.9:g.90001151G>A
CLNSRC
CLNACC RCV000147851.1, RCV000203608.1,