rs148542782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148542782(A;A) |
Make rs148542782(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 38071186 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs148542782 |
dbSNP (classic) | rs148542782 |
ClinGen | rs148542782 |
ebi | rs148542782 |
HLI | rs148542782 |
Exac | rs148542782 |
Gnomad | rs148542782 |
Varsome | rs148542782 |
LitVar | rs148542782 |
Map | rs148542782 |
PheGenI | rs148542782 |
Biobank | rs148542782 |
1000 genomes | rs148542782 |
hgdp | rs148542782 |
ensembl | rs148542782 |
geneview | rs148542782 |
scholar | rs148542782 |
rs148542782 | |
pharmgkb | rs148542782 |
gwascentral | rs148542782 |
openSNP | rs148542782 |
23andMe | rs148542782 |
SNPshot | rs148542782 |
SNPdbe | rs148542782 |
MSV3d | rs148542782 |
GWAS Ctlg | rs148542782 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148542782(A;A) rs148542782(T;T) |
Alt | rs148542782(A;A) rs148542782(T;T) |
Reference | Rs148542782(G;G) |
Significance | Pathogenic |
Disease | Peters anomaly Primary congenital glaucoma |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Peters anomaly Primary congenital glaucoma |
Reversed | 0 |
HGVS | NC_000002.11:g.38298329G>A |
CLNSRC | Illumina |
CLNACC | RCV000307738.1, RCV000396035.1, |