rs2808001
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2808001(A;A) |
Make rs2808001(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 3154458 |
Gene | TUBB2A |
is a | snp |
is | mentioned by |
dbSNP | rs2808001 |
dbSNP (classic) | rs2808001 |
ClinGen | rs2808001 |
ebi | rs2808001 |
HLI | rs2808001 |
Exac | rs2808001 |
Gnomad | rs2808001 |
Varsome | rs2808001 |
LitVar | rs2808001 |
Map | rs2808001 |
PheGenI | rs2808001 |
Biobank | rs2808001 |
1000 genomes | rs2808001 |
hgdp | rs2808001 |
ensembl | rs2808001 |
geneview | rs2808001 |
scholar | rs2808001 |
rs2808001 | |
pharmgkb | rs2808001 |
gwascentral | rs2808001 |
openSNP | rs2808001 |
23andMe | rs2808001 |
SNPshot | rs2808001 |
SNPdbe | rs2808001 |
MSV3d | rs2808001 |
GWAS Ctlg | rs2808001 |
Merged from | Rs587777324 |
Max Magnitude | 0 |
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, |