rs10825269
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs10825269(C;T) |
Make rs10825269(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 54195850 |
Gene | PCDH15 |
is a | snp |
is | mentioned by |
dbSNP | rs10825269 |
dbSNP (classic) | rs10825269 |
ClinGen | rs10825269 |
ebi | rs10825269 |
HLI | rs10825269 |
Exac | rs10825269 |
Gnomad | rs10825269 |
Varsome | rs10825269 |
LitVar | rs10825269 |
Map | rs10825269 |
PheGenI | rs10825269 |
Biobank | rs10825269 |
1000 genomes | rs10825269 |
hgdp | rs10825269 |
ensembl | rs10825269 |
geneview | rs10825269 |
scholar | rs10825269 |
rs10825269 | |
pharmgkb | rs10825269 |
gwascentral | rs10825269 |
openSNP | rs10825269 |
23andMe | rs10825269 |
SNPshot | rs10825269 |
SNPdbe | rs10825269 |
MSV3d | rs10825269 |
GWAS Ctlg | rs10825269 |
GMAF | 0.208 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 19816713] A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia
ClinVar | |
---|---|
Risk | rs10825269(T;T) |
Alt | rs10825269(T;T) |
Reference | Rs10825269(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified not provided Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
Variation | info |
Gene | PCDH15 |
CLNDBN | not specified not provided Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.55955610C>T |
CLNSRC | ClinVar |
CLNACC | RCV000039695.4, RCV000086940.1, RCV000304575.1, RCV000407693.1, |
GWAS snp | |
---|---|
PMID | [PMID 24797007] |
Trait | Irritable bowel syndrome |
Title | Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome. |
Risk Allele | T |
P-val | 5E-6 |
Odds Ratio | 1.55 [1.28-1.87] |