rs727505343
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727505343(-;-) |
Make rs727505343(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 216070273 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs727505343 |
dbSNP (classic) | rs727505343 |
ClinGen | rs727505343 |
ebi | rs727505343 |
HLI | rs727505343 |
Exac | rs727505343 |
Gnomad | rs727505343 |
Varsome | rs727505343 |
LitVar | rs727505343 |
Map | rs727505343 |
PheGenI | rs727505343 |
Biobank | rs727505343 |
1000 genomes | rs727505343 |
hgdp | rs727505343 |
ensembl | rs727505343 |
geneview | rs727505343 |
scholar | rs727505343 |
rs727505343 | |
pharmgkb | rs727505343 |
gwascentral | rs727505343 |
openSNP | rs727505343 |
23andMe | rs727505343 |
SNPshot | rs727505343 |
SNPdbe | rs727505343 |
MSV3d | rs727505343 |
GWAS Ctlg | rs727505343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505343(-;-) |
Alt | rs727505343(-;-) |
Reference | Rs727505343(T;T) |
Significance | Other |
Disease | Usher syndrome Retinitis pigmentosa 39 not provided |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A Retinitis pigmentosa 39 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.216243615delA |
CLNSRC | |
CLNACC | RCV000156895.2, RCV000412258.1, RCV000487657.1, |