rs758705873
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758705873(A;A) |
Make rs758705873(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 216200111 |
Gene | LOC105372918, USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs758705873 |
dbSNP (classic) | rs758705873 |
ClinGen | rs758705873 |
ebi | rs758705873 |
HLI | rs758705873 |
Exac | rs758705873 |
Gnomad | rs758705873 |
Varsome | rs758705873 |
LitVar | rs758705873 |
Map | rs758705873 |
PheGenI | rs758705873 |
Biobank | rs758705873 |
1000 genomes | rs758705873 |
hgdp | rs758705873 |
ensembl | rs758705873 |
geneview | rs758705873 |
scholar | rs758705873 |
rs758705873 | |
pharmgkb | rs758705873 |
gwascentral | rs758705873 |
openSNP | rs758705873 |
23andMe | rs758705873 |
SNPshot | rs758705873 |
SNPdbe | rs758705873 |
MSV3d | rs758705873 |
GWAS Ctlg | rs758705873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758705873(A;A) rs758705873(T;T) |
Alt | rs758705873(A;A) rs758705873(T;T) |
Reference | Rs758705873(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | USH2A |
CLNDBN | Retinal dystrophy |
Reversed | 0 |
HGVS | NC_000001.10:g.216373453G>T |
CLNSRC | |
CLNACC | RCV000225579.1, |