rs73090721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs73090721(A;A) |
Make rs73090721(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 215817108 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs73090721 |
dbSNP (classic) | rs73090721 |
ClinGen | rs73090721 |
ebi | rs73090721 |
HLI | rs73090721 |
Exac | rs73090721 |
Gnomad | rs73090721 |
Varsome | rs73090721 |
LitVar | rs73090721 |
Map | rs73090721 |
PheGenI | rs73090721 |
Biobank | rs73090721 |
1000 genomes | rs73090721 |
hgdp | rs73090721 |
ensembl | rs73090721 |
geneview | rs73090721 |
scholar | rs73090721 |
rs73090721 | |
pharmgkb | rs73090721 |
gwascentral | rs73090721 |
openSNP | rs73090721 |
23andMe | rs73090721 |
SNPshot | rs73090721 |
SNPdbe | rs73090721 |
MSV3d | rs73090721 |
GWAS Ctlg | rs73090721 |
GMAF | 0.003214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs73090721(A;A) rs73090721(T;T) |
Alt | rs73090721(A;A) rs73090721(T;T) |
Reference | Rs73090721(G;G) |
Significance | Other |
Disease | not specified Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | not specified Usher syndrome, type 2A |
Reversed | 0 |
HGVS | NC_000001.10:g.215990450G>A; NC_000001.10:g.215990450G>T |
CLNSRC | ClinVar |
CLNACC | RCV000155400.2, RCV000041954.2, |