rs786205116
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205116(-;T) |
Make rs786205116(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 215845988 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs786205116 |
dbSNP (classic) | rs786205116 |
ClinGen | rs786205116 |
ebi | rs786205116 |
HLI | rs786205116 |
Exac | rs786205116 |
Gnomad | rs786205116 |
Varsome | rs786205116 |
LitVar | rs786205116 |
Map | rs786205116 |
PheGenI | rs786205116 |
Biobank | rs786205116 |
1000 genomes | rs786205116 |
hgdp | rs786205116 |
ensembl | rs786205116 |
geneview | rs786205116 |
scholar | rs786205116 |
rs786205116 | |
pharmgkb | rs786205116 |
gwascentral | rs786205116 |
openSNP | rs786205116 |
23andMe | rs786205116 |
SNPshot | rs786205116 |
SNPdbe | rs786205116 |
MSV3d | rs786205116 |
GWAS Ctlg | rs786205116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205116(T;T) |
Alt | rs786205116(T;T) |
Reference | Rs786205116(-;-) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | USH2A |
CLNDBN | Usher syndrome, type 2A |
Reversed | 1 |
HGVS | NC_000001.10:g.216019331dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023702.3, |