rs137854862
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137854862(A;A) |
Make rs137854862(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 74508685 |
Gene | LTBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs137854862 |
dbSNP (classic) | rs137854862 |
ClinGen | rs137854862 |
ebi | rs137854862 |
HLI | rs137854862 |
Exac | rs137854862 |
Gnomad | rs137854862 |
Varsome | rs137854862 |
LitVar | rs137854862 |
Map | rs137854862 |
PheGenI | rs137854862 |
Biobank | rs137854862 |
1000 genomes | rs137854862 |
hgdp | rs137854862 |
ensembl | rs137854862 |
geneview | rs137854862 |
scholar | rs137854862 |
rs137854862 | |
pharmgkb | rs137854862 |
gwascentral | rs137854862 |
openSNP | rs137854862 |
23andMe | rs137854862 |
SNPshot | rs137854862 |
SNPdbe | rs137854862 |
MSV3d | rs137854862 |
GWAS Ctlg | rs137854862 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854862(A;A) |
Alt | rs137854862(A;A) |
Reference | Rs137854862(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary open angle glaucoma Weill-Marchesani syndrome Primary congenital glaucoma |
Variation | info |
Gene | LTBP2 |
CLNDBN | Primary open angle glaucoma Weill-Marchesani syndrome Primary congenital glaucoma |
Reversed | 1 |
HGVS | NC_000014.8:g.74975388C>T |
CLNSRC | ClinVar |
CLNACC | RCV000114811.1, RCV000346813.1, RCV000385005.1, |