rs148660051
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148660051(C;T) |
Make rs148660051(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 215790168 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs148660051 |
dbSNP (classic) | rs148660051 |
ClinGen | rs148660051 |
ebi | rs148660051 |
HLI | rs148660051 |
Exac | rs148660051 |
Gnomad | rs148660051 |
Varsome | rs148660051 |
LitVar | rs148660051 |
Map | rs148660051 |
PheGenI | rs148660051 |
Biobank | rs148660051 |
1000 genomes | rs148660051 |
hgdp | rs148660051 |
ensembl | rs148660051 |
geneview | rs148660051 |
scholar | rs148660051 |
rs148660051 | |
pharmgkb | rs148660051 |
gwascentral | rs148660051 |
openSNP | rs148660051 |
23andMe | rs148660051 |
SNPshot | rs148660051 |
SNPdbe | rs148660051 |
MSV3d | rs148660051 |
GWAS Ctlg | rs148660051 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148660051(T;T) |
Alt | rs148660051(T;T) |
Reference | Rs148660051(C;C) |
Significance | Other |
Disease | Retinitis pigmentosa 39 Usher syndrome not provided |
Variation | info |
Gene | USH2A |
CLNDBN | Retinitis pigmentosa 39 Usher syndrome, type 2A not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.215963510C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000179099.1, RCV000190637.4, RCV000482080.1, |