rs483353056
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483353056(A;A) |
Make rs483353056(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 215900194 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs483353056 |
dbSNP (classic) | rs483353056 |
ClinGen | rs483353056 |
ebi | rs483353056 |
HLI | rs483353056 |
Exac | rs483353056 |
Gnomad | rs483353056 |
Varsome | rs483353056 |
LitVar | rs483353056 |
Map | rs483353056 |
PheGenI | rs483353056 |
Biobank | rs483353056 |
1000 genomes | rs483353056 |
hgdp | rs483353056 |
ensembl | rs483353056 |
geneview | rs483353056 |
scholar | rs483353056 |
rs483353056 | |
pharmgkb | rs483353056 |
gwascentral | rs483353056 |
openSNP | rs483353056 |
23andMe | rs483353056 |
SNPshot | rs483353056 |
SNPdbe | rs483353056 |
MSV3d | rs483353056 |
GWAS Ctlg | rs483353056 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353056(A;A) rs483353056(T;T) |
Alt | rs483353056(A;A) rs483353056(T;T) |
Reference | Rs483353056(C;C) |
Significance | Pathogenic |
Disease | not specified Usher syndrome not provided |
Variation | info |
Gene | USH2A |
CLNDBN | not specified Usher syndrome, type 2A not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.216073536G>A; NC_000001.10:g.216073536G>T |
CLNSRC | ClinVar |
CLNACC | RCV000373313.1, RCV000119825.1, RCV000444053.1, |