rs483352837
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGT;TGT) | 0 | common in clinvar |
Make rs483352837(-;-) |
Make rs483352837(-;TGT) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 54023049 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs483352837 |
dbSNP (classic) | rs483352837 |
ClinGen | rs483352837 |
ebi | rs483352837 |
HLI | rs483352837 |
Exac | rs483352837 |
Gnomad | rs483352837 |
Varsome | rs483352837 |
LitVar | rs483352837 |
Map | rs483352837 |
PheGenI | rs483352837 |
Biobank | rs483352837 |
1000 genomes | rs483352837 |
hgdp | rs483352837 |
ensembl | rs483352837 |
geneview | rs483352837 |
scholar | rs483352837 |
rs483352837 | |
pharmgkb | rs483352837 |
gwascentral | rs483352837 |
openSNP | rs483352837 |
23andMe | rs483352837 |
SNPshot | rs483352837 |
SNPdbe | rs483352837 |
MSV3d | rs483352837 |
GWAS Ctlg | rs483352837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352837(-;-) |
Alt | rs483352837(-;-) |
Reference | Rs483352837(TGT;TGT) |
Significance | Pathogenic |
Disease | Deafness not specified |
Variation | info |
Gene | PCDH15 |
CLNDBN | Deafness, autosomal recessive 23 not specified |
Reversed | 1 |
HGVS | NC_000010.10:g.55782809_55782811delACA |
CLNSRC | ClinVar |
CLNACC | RCV000114410.1, RCV000220485.1, |