rs796051860
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATG;ATG) | 0 | common in clinvar |
(TGA;TGA) | 0 | common in clinvar |
Make rs796051860(-;-) |
Make rs796051860(-;TGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 71732113 |
Gene | CDH23, C10orf105 |
is a | snp |
is | mentioned by |
dbSNP | rs796051860 |
dbSNP (classic) | rs796051860 |
ClinGen | rs796051860 |
ebi | rs796051860 |
HLI | rs796051860 |
Exac | rs796051860 |
Gnomad | rs796051860 |
Varsome | rs796051860 |
LitVar | rs796051860 |
Map | rs796051860 |
PheGenI | rs796051860 |
Biobank | rs796051860 |
1000 genomes | rs796051860 |
hgdp | rs796051860 |
ensembl | rs796051860 |
geneview | rs796051860 |
scholar | rs796051860 |
rs796051860 | |
pharmgkb | rs796051860 |
gwascentral | rs796051860 |
openSNP | rs796051860 |
23andMe | rs796051860 |
SNPshot | rs796051860 |
SNPdbe | rs796051860 |
MSV3d | rs796051860 |
GWAS Ctlg | rs796051860 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051860(-;-) Rs796051860(ATG;ATG) |
Alt | rs796051860(-;-) Rs796051860(ATG;ATG) |
Reference | Rs796051860(TGA;TGA) |
Significance | Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | C10orf105 CDH23 |
CLNDBN | Usher syndrome, type 1D |
Reversed | 0 |
HGVS | NC_000010.10:g.73491870_73491872delTGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005199.3, |