rs1056396947
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 53809339 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs1056396947 |
dbSNP (classic) | rs1056396947 |
ClinGen | rs1056396947 |
ebi | rs1056396947 |
HLI | rs1056396947 |
Exac | rs1056396947 |
Gnomad | rs1056396947 |
Varsome | rs1056396947 |
LitVar | rs1056396947 |
Map | rs1056396947 |
PheGenI | rs1056396947 |
Biobank | rs1056396947 |
1000 genomes | rs1056396947 |
hgdp | rs1056396947 |
ensembl | rs1056396947 |
geneview | rs1056396947 |
scholar | rs1056396947 |
rs1056396947 | |
pharmgkb | rs1056396947 |
gwascentral | rs1056396947 |
openSNP | rs1056396947 |
23andMe | rs1056396947 |
SNPshot | rs1056396947 |
SNPdbe | rs1056396947 |
MSV3d | rs1056396947 |
GWAS Ctlg | rs1056396947 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1056396947(A;A) |
Alt | rs1056396947(A;A) |
Reference | Rs1056396947(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | |
CLNDBN | Deafness, autosomal recessive 23 |
Reversed | 0 |
HGVS | NC_000010.10:g.55569099G>A |
CLNSRC | |
CLNACC | RCV000454314.1, |