rs760225886
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs760225886(C;T) |
Make rs760225886(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 215816996 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs760225886 |
dbSNP (classic) | rs760225886 |
ClinGen | rs760225886 |
ebi | rs760225886 |
HLI | rs760225886 |
Exac | rs760225886 |
Gnomad | rs760225886 |
Varsome | rs760225886 |
LitVar | rs760225886 |
Map | rs760225886 |
PheGenI | rs760225886 |
Biobank | rs760225886 |
1000 genomes | rs760225886 |
hgdp | rs760225886 |
ensembl | rs760225886 |
geneview | rs760225886 |
scholar | rs760225886 |
rs760225886 | |
pharmgkb | rs760225886 |
gwascentral | rs760225886 |
openSNP | rs760225886 |
23andMe | rs760225886 |
SNPshot | rs760225886 |
SNPdbe | rs760225886 |
MSV3d | rs760225886 |
GWAS Ctlg | rs760225886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760225886(T;T) |
Alt | rs760225886(T;T) |
Reference | Rs760225886(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 0 |
HGVS | NC_000001.10:g.215990338C>T |
CLNSRC | |
CLNACC | RCV000217703.1, |