rs397517313
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397517313(-;-) |
Make rs397517313(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71687672 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs397517313 |
dbSNP (classic) | rs397517313 |
ClinGen | rs397517313 |
ebi | rs397517313 |
HLI | rs397517313 |
Exac | rs397517313 |
Gnomad | rs397517313 |
Varsome | rs397517313 |
LitVar | rs397517313 |
Map | rs397517313 |
PheGenI | rs397517313 |
Biobank | rs397517313 |
1000 genomes | rs397517313 |
hgdp | rs397517313 |
ensembl | rs397517313 |
geneview | rs397517313 |
scholar | rs397517313 |
rs397517313 | |
pharmgkb | rs397517313 |
gwascentral | rs397517313 |
openSNP | rs397517313 |
23andMe | rs397517313 |
SNPshot | rs397517313 |
SNPdbe | rs397517313 |
MSV3d | rs397517313 |
GWAS Ctlg | rs397517313 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517313(-;-) |
Alt | rs397517313(-;-) |
Reference | Rs397517313(T;T) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | CDH23 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.73447429delT |
CLNSRC | ClinVar |
CLNACC | RCV000039119.2, |