rs111033382
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033382(G;T) |
Make rs111033382(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 215759659 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs111033382 |
dbSNP (classic) | rs111033382 |
ClinGen | rs111033382 |
ebi | rs111033382 |
HLI | rs111033382 |
Exac | rs111033382 |
Gnomad | rs111033382 |
Varsome | rs111033382 |
LitVar | rs111033382 |
Map | rs111033382 |
PheGenI | rs111033382 |
Biobank | rs111033382 |
1000 genomes | rs111033382 |
hgdp | rs111033382 |
ensembl | rs111033382 |
geneview | rs111033382 |
scholar | rs111033382 |
rs111033382 | |
pharmgkb | rs111033382 |
gwascentral | rs111033382 |
openSNP | rs111033382 |
23andMe | rs111033382 |
SNPshot | rs111033382 |
SNPdbe | rs111033382 |
MSV3d | rs111033382 |
GWAS Ctlg | rs111033382 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033382(T;T) |
Alt | rs111033382(T;T) |
Reference | Rs111033382(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.215933001C>A |
CLNSRC | ClinVar |
CLNACC | RCV000041690.2, |