rs397517323
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397517323(C;T) |
Make rs397517323(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71725422 |
Gene | CDH23, C10orf105 |
is a | snp |
is | mentioned by |
dbSNP | rs397517323 |
dbSNP (classic) | rs397517323 |
ClinGen | rs397517323 |
ebi | rs397517323 |
HLI | rs397517323 |
Exac | rs397517323 |
Gnomad | rs397517323 |
Varsome | rs397517323 |
LitVar | rs397517323 |
Map | rs397517323 |
PheGenI | rs397517323 |
Biobank | rs397517323 |
1000 genomes | rs397517323 |
hgdp | rs397517323 |
ensembl | rs397517323 |
geneview | rs397517323 |
scholar | rs397517323 |
rs397517323 | |
pharmgkb | rs397517323 |
gwascentral | rs397517323 |
openSNP | rs397517323 |
23andMe | rs397517323 |
SNPshot | rs397517323 |
SNPdbe | rs397517323 |
MSV3d | rs397517323 |
GWAS Ctlg | rs397517323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517323(T;T) |
Alt | rs397517323(T;T) |
Reference | Rs397517323(C;C) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | C10orf105 CDH23 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.73485179C>T |
CLNSRC | ClinVar |
CLNACC | RCV000039153.3, |