rs727503725
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727503725(A;A) |
Make rs727503725(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 216000490 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs727503725 |
dbSNP (classic) | rs727503725 |
ClinGen | rs727503725 |
ebi | rs727503725 |
HLI | rs727503725 |
Exac | rs727503725 |
Gnomad | rs727503725 |
Varsome | rs727503725 |
LitVar | rs727503725 |
Map | rs727503725 |
PheGenI | rs727503725 |
Biobank | rs727503725 |
1000 genomes | rs727503725 |
hgdp | rs727503725 |
ensembl | rs727503725 |
geneview | rs727503725 |
scholar | rs727503725 |
rs727503725 | |
pharmgkb | rs727503725 |
gwascentral | rs727503725 |
openSNP | rs727503725 |
23andMe | rs727503725 |
SNPshot | rs727503725 |
SNPdbe | rs727503725 |
MSV3d | rs727503725 |
GWAS Ctlg | rs727503725 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503725(A;A) |
Alt | rs727503725(A;A) |
Reference | Rs727503725(G;G) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.216173832C>T |
CLNSRC | |
CLNACC | RCV000152604.2, |