rs587784505
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587784505(A;A) |
Make rs587784505(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 89934743 |
Gene | TUBB3 |
is a | snp |
is | mentioned by |
dbSNP | rs587784505 |
dbSNP (classic) | rs587784505 |
ClinGen | rs587784505 |
ebi | rs587784505 |
HLI | rs587784505 |
Exac | rs587784505 |
Gnomad | rs587784505 |
Varsome | rs587784505 |
LitVar | rs587784505 |
Map | rs587784505 |
PheGenI | rs587784505 |
Biobank | rs587784505 |
1000 genomes | rs587784505 |
hgdp | rs587784505 |
ensembl | rs587784505 |
geneview | rs587784505 |
scholar | rs587784505 |
rs587784505 | |
pharmgkb | rs587784505 |
gwascentral | rs587784505 |
openSNP | rs587784505 |
23andMe | rs587784505 |
SNPshot | rs587784505 |
SNPdbe | rs587784505 |
MSV3d | rs587784505 |
GWAS Ctlg | rs587784505 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784505(A;A) |
Alt | rs587784505(A;A) |
Reference | Rs587784505(G;G) |
Significance | Pathogenic |
Disease | Cortical dysplasia Fibrosis of extraocular muscles not provided |
Variation | info |
Gene | TUBB3 |
CLNDBN | Cortical dysplasia, complex, with other brain malformations 1 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.90001151G>A |
CLNSRC | |
CLNACC | RCV000147851.1, RCV000203608.1, RCV000255388.1, |