rs146733615
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146733615(A;A) |
Make rs146733615(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 215640723 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs146733615 |
dbSNP (classic) | rs146733615 |
ClinGen | rs146733615 |
ebi | rs146733615 |
HLI | rs146733615 |
Exac | rs146733615 |
Gnomad | rs146733615 |
Varsome | rs146733615 |
LitVar | rs146733615 |
Map | rs146733615 |
PheGenI | rs146733615 |
Biobank | rs146733615 |
1000 genomes | rs146733615 |
hgdp | rs146733615 |
ensembl | rs146733615 |
geneview | rs146733615 |
scholar | rs146733615 |
rs146733615 | |
pharmgkb | rs146733615 |
gwascentral | rs146733615 |
openSNP | rs146733615 |
23andMe | rs146733615 |
SNPshot | rs146733615 |
SNPdbe | rs146733615 |
MSV3d | rs146733615 |
GWAS Ctlg | rs146733615 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146733615(A;A) |
Alt | rs146733615(A;A) |
Reference | Rs146733615(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 39 Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Retinitis pigmentosa 39 Usher syndrome, type 2A |
Reversed | 0 |
HGVS | NC_000001.10:g.215814065G>A |
CLNSRC | |
CLNACC | RCV000154377.1, RCV000410556.1, RCV000411616.1, |