rs35703638
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 1 | Uncertain significance; possibly related to open-angle glaucoma |
Make rs35703638(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 111106140 |
Gene | WDR36 |
is a | snp |
is | mentioned by |
dbSNP | rs35703638 |
dbSNP (classic) | rs35703638 |
ClinGen | rs35703638 |
ebi | rs35703638 |
HLI | rs35703638 |
Exac | rs35703638 |
Gnomad | rs35703638 |
Varsome | rs35703638 |
LitVar | rs35703638 |
Map | rs35703638 |
PheGenI | rs35703638 |
Biobank | rs35703638 |
1000 genomes | rs35703638 |
hgdp | rs35703638 |
ensembl | rs35703638 |
geneview | rs35703638 |
scholar | rs35703638 |
rs35703638 | |
pharmgkb | rs35703638 |
gwascentral | rs35703638 |
openSNP | rs35703638 |
23andMe | rs35703638 |
SNPshot | rs35703638 |
SNPdbe | rs35703638 |
MSV3d | rs35703638 |
GWAS Ctlg | rs35703638 |
GMAF | 0.002755 |
Max Magnitude | 1 |
c.1345G>A (p.Ala449Thr)
ClinVar | |
---|---|
Risk | rs35703638(T;T) |
Alt | rs35703638(T;T) |
Reference | Rs35703638(C;C) |
Significance | Probable-non-pathogenic |
Disease | Glaucoma 1 Primary open angle glaucoma |
Variation | info |
Gene | WDR36 |
CLNDBN | Glaucoma 1, open angle, G Primary open angle glaucoma |
Reversed | 1 |
HGVS | NC_000005.9:g.110441839G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001649.3, RCV000317011.1, |