rs1064792896
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CGAGTGCAGGCAG;CGAGTGCAGGCAG) | 0 | common in clinvar |
Chromosome | 2 |
Position | 38071279 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792896 |
dbSNP (classic) | rs1064792896 |
ClinGen | rs1064792896 |
ebi | rs1064792896 |
HLI | rs1064792896 |
Exac | rs1064792896 |
Gnomad | rs1064792896 |
Varsome | rs1064792896 |
LitVar | rs1064792896 |
Map | rs1064792896 |
PheGenI | rs1064792896 |
Biobank | rs1064792896 |
1000 genomes | rs1064792896 |
hgdp | rs1064792896 |
ensembl | rs1064792896 |
geneview | rs1064792896 |
scholar | rs1064792896 |
rs1064792896 | |
pharmgkb | rs1064792896 |
gwascentral | rs1064792896 |
openSNP | rs1064792896 |
23andMe | rs1064792896 |
SNPshot | rs1064792896 |
SNPdbe | rs1064792896 |
MSV3d | rs1064792896 |
GWAS Ctlg | rs1064792896 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792896(-;-) |
Alt | rs1064792896(-;-) |
Reference | Rs1064792896(CGAGTGCAGGCAG;CGAGTGCAGGCAG) |
Significance | Pathogenic |
Disease | Glaucoma Irido-corneo-trabecular dysgenesis |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Glaucoma, congenital Irido-corneo-trabecular dysgenesis |
Reversed | 1 |
HGVS | NC_000002.11:g.38298422_38298434delCTGCCTGCACTCG |
CLNSRC | |
CLNACC | RCV000477808.1, |