rs876657733
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs876657733(A;A) |
Make rs876657733(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 215877757 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs876657733 |
dbSNP (classic) | rs876657733 |
ClinGen | rs876657733 |
ebi | rs876657733 |
HLI | rs876657733 |
Exac | rs876657733 |
Gnomad | rs876657733 |
Varsome | rs876657733 |
LitVar | rs876657733 |
Map | rs876657733 |
PheGenI | rs876657733 |
Biobank | rs876657733 |
1000 genomes | rs876657733 |
hgdp | rs876657733 |
ensembl | rs876657733 |
geneview | rs876657733 |
scholar | rs876657733 |
rs876657733 | |
pharmgkb | rs876657733 |
gwascentral | rs876657733 |
openSNP | rs876657733 |
23andMe | rs876657733 |
SNPshot | rs876657733 |
SNPdbe | rs876657733 |
MSV3d | rs876657733 |
GWAS Ctlg | rs876657733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657733(A;A) |
Alt | rs876657733(A;A) |
Reference | Rs876657733(G;G) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.216051099C>T |
CLNSRC | |
CLNACC | RCV000222048.1, |