rs876657419
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs876657419(C;G) |
Make rs876657419(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 74923028 |
Gene | OTOP2, USH1G |
is a | snp |
is | mentioned by |
dbSNP | rs876657419 |
dbSNP (classic) | rs876657419 |
ClinGen | rs876657419 |
ebi | rs876657419 |
HLI | rs876657419 |
Exac | rs876657419 |
Gnomad | rs876657419 |
Varsome | rs876657419 |
LitVar | rs876657419 |
Map | rs876657419 |
PheGenI | rs876657419 |
Biobank | rs876657419 |
1000 genomes | rs876657419 |
hgdp | rs876657419 |
ensembl | rs876657419 |
geneview | rs876657419 |
scholar | rs876657419 |
rs876657419 | |
pharmgkb | rs876657419 |
gwascentral | rs876657419 |
openSNP | rs876657419 |
23andMe | rs876657419 |
SNPshot | rs876657419 |
SNPdbe | rs876657419 |
MSV3d | rs876657419 |
GWAS Ctlg | rs876657419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657419(G;G) |
Alt | rs876657419(G;G) |
Reference | Rs876657419(C;C) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH1G OTOP2 |
CLNDBN | Usher syndrome, type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.72919123G>C |
CLNSRC | |
CLNACC | RCV000220910.1, |