rs111033473
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033473(-;-) |
Make rs111033473(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71793340 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs111033473 |
dbSNP (classic) | rs111033473 |
ClinGen | rs111033473 |
ebi | rs111033473 |
HLI | rs111033473 |
Exac | rs111033473 |
Gnomad | rs111033473 |
Varsome | rs111033473 |
LitVar | rs111033473 |
Map | rs111033473 |
PheGenI | rs111033473 |
Biobank | rs111033473 |
1000 genomes | rs111033473 |
hgdp | rs111033473 |
ensembl | rs111033473 |
geneview | rs111033473 |
scholar | rs111033473 |
rs111033473 | |
pharmgkb | rs111033473 |
gwascentral | rs111033473 |
openSNP | rs111033473 |
23andMe | rs111033473 |
SNPshot | rs111033473 |
SNPdbe | rs111033473 |
MSV3d | rs111033473 |
GWAS Ctlg | rs111033473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033473(-;-) |
Alt | rs111033473(-;-) |
Reference | Rs111033473(G;G) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | CDH23 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.73553097delG |
CLNSRC | ClinVar |
CLNACC | RCV000039244.2, |