rs72549380
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAGTGCAGGCAGA;GAGTGCAGGCAGA) | 0 | common in clinvar |
Make rs72549380(-;-) |
Make rs72549380(-;GAGTGCAGGCAGA) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 38071278 |
Gene | CYP1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs72549380 |
dbSNP (classic) | rs72549380 |
ClinGen | rs72549380 |
ebi | rs72549380 |
HLI | rs72549380 |
Exac | rs72549380 |
Gnomad | rs72549380 |
Varsome | rs72549380 |
LitVar | rs72549380 |
Map | rs72549380 |
PheGenI | rs72549380 |
Biobank | rs72549380 |
1000 genomes | rs72549380 |
hgdp | rs72549380 |
ensembl | rs72549380 |
geneview | rs72549380 |
scholar | rs72549380 |
rs72549380 | |
pharmgkb | rs72549380 |
gwascentral | rs72549380 |
openSNP | rs72549380 |
23andMe | rs72549380 |
SNPshot | rs72549380 |
SNPdbe | rs72549380 |
MSV3d | rs72549380 |
GWAS Ctlg | rs72549380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72549380(-;-) |
Alt | rs72549380(-;-) |
Reference | Rs72549380(GAGTGCAGGCAGA;GAGTGCAGGCAGA) |
Significance | Pathogenic |
Disease | Glaucoma |
Variation | info |
Gene | CYP1B1 |
CLNDBN | Glaucoma, congenital |
Reversed | 1 |
HGVS | NC_000002.11:g.38298421_38298433delTCTGCCTGCACTC |
CLNSRC | |
CLNACC | RCV000260225.1, |