rs201824781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201824781(A;A) |
Make rs201824781(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 38075234 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs201824781 |
dbSNP (classic) | rs201824781 |
ClinGen | rs201824781 |
ebi | rs201824781 |
HLI | rs201824781 |
Exac | rs201824781 |
Gnomad | rs201824781 |
Varsome | rs201824781 |
LitVar | rs201824781 |
Map | rs201824781 |
PheGenI | rs201824781 |
Biobank | rs201824781 |
1000 genomes | rs201824781 |
hgdp | rs201824781 |
ensembl | rs201824781 |
geneview | rs201824781 |
scholar | rs201824781 |
rs201824781 | |
pharmgkb | rs201824781 |
gwascentral | rs201824781 |
openSNP | rs201824781 |
23andMe | rs201824781 |
SNPshot | rs201824781 |
SNPdbe | rs201824781 |
MSV3d | rs201824781 |
GWAS Ctlg | rs201824781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201824781(A;A) |
Alt | rs201824781(A;A) |
Reference | Rs201824781(G;G) |
Significance | Pathogenic |
Disease | Glaucoma not specified |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Glaucoma, primary open angle, juvenile-onset not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.38302377G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023148.3, RCV000349391.1, |