rs878853414
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878853414(-;-) |
Make rs878853414(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 216000418 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs878853414 |
dbSNP (classic) | rs878853414 |
ClinGen | rs878853414 |
ebi | rs878853414 |
HLI | rs878853414 |
Exac | rs878853414 |
Gnomad | rs878853414 |
Varsome | rs878853414 |
LitVar | rs878853414 |
Map | rs878853414 |
PheGenI | rs878853414 |
Biobank | rs878853414 |
1000 genomes | rs878853414 |
hgdp | rs878853414 |
ensembl | rs878853414 |
geneview | rs878853414 |
scholar | rs878853414 |
rs878853414 | |
pharmgkb | rs878853414 |
gwascentral | rs878853414 |
openSNP | rs878853414 |
23andMe | rs878853414 |
SNPshot | rs878853414 |
SNPdbe | rs878853414 |
MSV3d | rs878853414 |
GWAS Ctlg | rs878853414 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853414(-;-) |
Alt | rs878853414(-;-) |
Reference | Rs878853414(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | USH2A |
CLNDBN | Retinal dystrophy |
Reversed | 1 |
HGVS | NC_000001.10:g.216173760delC |
CLNSRC | |
CLNACC | RCV000225641.1, |