rs750228923
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs750228923(-;-) |
Make rs750228923(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 216324282 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs750228923 |
dbSNP (classic) | rs750228923 |
ClinGen | rs750228923 |
ebi | rs750228923 |
HLI | rs750228923 |
Exac | rs750228923 |
Gnomad | rs750228923 |
Varsome | rs750228923 |
LitVar | rs750228923 |
Map | rs750228923 |
PheGenI | rs750228923 |
Biobank | rs750228923 |
1000 genomes | rs750228923 |
hgdp | rs750228923 |
ensembl | rs750228923 |
geneview | rs750228923 |
scholar | rs750228923 |
rs750228923 | |
pharmgkb | rs750228923 |
gwascentral | rs750228923 |
openSNP | rs750228923 |
23andMe | rs750228923 |
SNPshot | rs750228923 |
SNPdbe | rs750228923 |
MSV3d | rs750228923 |
GWAS Ctlg | rs750228923 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750228923(-;-) |
Alt | rs750228923(-;-) |
Reference | Rs750228923(T;T) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 0 |
HGVS | NC_000001.10:g.216497624delT |
CLNSRC | |
CLNACC | RCV000169682.1, |