rs104886478
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104886478(C;T) |
Make rs104886478(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 151181233 |
Gene | ASB10 |
is a | snp |
is | mentioned by |
dbSNP | rs104886478 |
dbSNP (classic) | rs104886478 |
ClinGen | rs104886478 |
ebi | rs104886478 |
HLI | rs104886478 |
Exac | rs104886478 |
Gnomad | rs104886478 |
Varsome | rs104886478 |
LitVar | rs104886478 |
Map | rs104886478 |
PheGenI | rs104886478 |
Biobank | rs104886478 |
1000 genomes | rs104886478 |
hgdp | rs104886478 |
ensembl | rs104886478 |
geneview | rs104886478 |
scholar | rs104886478 |
rs104886478 | |
pharmgkb | rs104886478 |
gwascentral | rs104886478 |
openSNP | rs104886478 |
23andMe | rs104886478 |
SNPshot | rs104886478 |
SNPdbe | rs104886478 |
MSV3d | rs104886478 |
GWAS Ctlg | rs104886478 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104886478(T;T) |
Alt | rs104886478(T;T) |
Reference | Rs104886478(C;C) |
Significance | Pathogenic |
Disease | Glaucoma 1 |
Variation | info |
Gene | ASB10 |
CLNDBN | Glaucoma 1, open angle, F |
Reversed | 1 |
HGVS | NC_000007.13:g.150878320G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043656.3, |
[PMID 10037570] GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.