rs527236137
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236137(C;T) |
Make rs527236137(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 215674901 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs527236137 |
dbSNP (classic) | rs527236137 |
ClinGen | rs527236137 |
ebi | rs527236137 |
HLI | rs527236137 |
Exac | rs527236137 |
Gnomad | rs527236137 |
Varsome | rs527236137 |
LitVar | rs527236137 |
Map | rs527236137 |
PheGenI | rs527236137 |
Biobank | rs527236137 |
1000 genomes | rs527236137 |
hgdp | rs527236137 |
ensembl | rs527236137 |
geneview | rs527236137 |
scholar | rs527236137 |
rs527236137 | |
pharmgkb | rs527236137 |
gwascentral | rs527236137 |
openSNP | rs527236137 |
23andMe | rs527236137 |
SNPshot | rs527236137 |
SNPdbe | rs527236137 |
MSV3d | rs527236137 |
GWAS Ctlg | rs527236137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236137(T;T) |
Alt | rs527236137(T;T) |
Reference | Rs527236137(C;C) |
Significance | Other |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.215848243G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132703.2, |