rs397517305
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCCATCCCACTGGACTACGAG;GCCATCCCACTGGACTACGAG) | 0 | common/normal |
(GGCCATCCCACTGGACTACGA;GGCCATCCCACTGGACTACGA) | 0 | common in clinvar |
Make rs397517305(-;-) |
Make rs397517305(-;GCCATCCCACTGGACTACGAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 71645936 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs397517305 |
dbSNP (classic) | rs397517305 |
ClinGen | rs397517305 |
ebi | rs397517305 |
HLI | rs397517305 |
Exac | rs397517305 |
Gnomad | rs397517305 |
Varsome | rs397517305 |
LitVar | rs397517305 |
Map | rs397517305 |
PheGenI | rs397517305 |
Biobank | rs397517305 |
1000 genomes | rs397517305 |
hgdp | rs397517305 |
ensembl | rs397517305 |
geneview | rs397517305 |
scholar | rs397517305 |
rs397517305 | |
pharmgkb | rs397517305 |
gwascentral | rs397517305 |
openSNP | rs397517305 |
23andMe | rs397517305 |
SNPshot | rs397517305 |
SNPdbe | rs397517305 |
MSV3d | rs397517305 |
GWAS Ctlg | rs397517305 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517305(-;-) |
Alt | rs397517305(-;-) |
Reference | Rs397517305(GGCCATCCCACTGGACTACGA;GGCCATCCCACTGGACTACGA) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | CDH23 |
CLNDBN | Deafness, autosomal recessive 12 |
Reversed | 0 |
HGVS | NC_000010.10:g.73405693_73405713del21 |
CLNSRC | |
CLNACC | RCV000150273.1, |