rs3752752
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs3752752(A;G) |
Make rs3752752(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 71695444 |
Gene | CDH23 |
is a | snp |
is | mentioned by |
dbSNP | rs3752752 |
dbSNP (classic) | rs3752752 |
ClinGen | rs3752752 |
ebi | rs3752752 |
HLI | rs3752752 |
Exac | rs3752752 |
Gnomad | rs3752752 |
Varsome | rs3752752 |
LitVar | rs3752752 |
Map | rs3752752 |
PheGenI | rs3752752 |
Biobank | rs3752752 |
1000 genomes | rs3752752 |
hgdp | rs3752752 |
ensembl | rs3752752 |
geneview | rs3752752 |
scholar | rs3752752 |
rs3752752 | |
pharmgkb | rs3752752 |
gwascentral | rs3752752 |
openSNP | rs3752752 |
23andMe | rs3752752 |
SNPshot | rs3752752 |
SNPdbe | rs3752752 |
MSV3d | rs3752752 |
GWAS Ctlg | rs3752752 |
GMAF | 0.4215 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 24448297] Genetic Variants of CDH23 Associated With Noise-Induced Hearing Loss
ClinVar | |
---|---|
Risk | rs3752752(G;G) |
Alt | rs3752752(G;G) |
Reference | Rs3752752(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
Variation | info |
Gene | CDH23 |
CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.73455201T\x3d; NC_000010.10:g.73455201T>C |
CLNSRC | ClinVar |
CLNACC | RCV000154334.1, RCV000039126.3, RCV000349454.1, RCV000394281.1, |
[PMID 32306668] [Relationship research among CDH23 gene and the risk of noise-induced hearing loss].