rs398123046
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123046(A;G) |
Make rs398123046(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42610535 |
Gene | FAM134C, TUBG1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123046 |
dbSNP (classic) | rs398123046 |
ClinGen | rs398123046 |
ebi | rs398123046 |
HLI | rs398123046 |
Exac | rs398123046 |
Gnomad | rs398123046 |
Varsome | rs398123046 |
LitVar | rs398123046 |
Map | rs398123046 |
PheGenI | rs398123046 |
Biobank | rs398123046 |
1000 genomes | rs398123046 |
hgdp | rs398123046 |
ensembl | rs398123046 |
geneview | rs398123046 |
scholar | rs398123046 |
rs398123046 | |
pharmgkb | rs398123046 |
gwascentral | rs398123046 |
openSNP | rs398123046 |
23andMe | rs398123046 |
SNPshot | rs398123046 |
SNPdbe | rs398123046 |
MSV3d | rs398123046 |
GWAS Ctlg | rs398123046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123046(G;G) |
Alt | rs398123046(G;G) |
Reference | Rs398123046(A;A) |
Significance | Pathogenic |
Disease | Cortical dysplasia |
Variation | info |
Gene | FAM134C TUBG1 |
CLNDBN | Cortical dysplasia, complex, with other brain malformations 4 |
Reversed | 0 |
HGVS | NC_000017.10:g.40762553A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055621.22, |