rs219780
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs219780(A;A) |
| Make rs219780(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 36461009 |
| Gene | CLDN14, LOC105369301 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs219780 |
| dbSNP (classic) | rs219780 |
| ClinGen | rs219780 |
| ebi | rs219780 |
| HLI | rs219780 |
| Exac | rs219780 |
| Gnomad | rs219780 |
| Varsome | rs219780 |
| LitVar | rs219780 |
| Map | rs219780 |
| PheGenI | rs219780 |
| Biobank | rs219780 |
| 1000 genomes | rs219780 |
| hgdp | rs219780 |
| ensembl | rs219780 |
| geneview | rs219780 |
| scholar | rs219780 |
| rs219780 | |
| pharmgkb | rs219780 |
| gwascentral | rs219780 |
| openSNP | rs219780 |
| 23andMe | rs219780 |
| SNPshot | rs219780 |
| SNPdbe | rs219780 |
| MSV3d | rs219780 |
| GWAS Ctlg | rs219780 |
| GMAF | 0.1515 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
nature Carriers of two C alleles of this SNP in CLDN14 gene have 1.6 times higher risk of kidney stones. The rs219780(C;C) genotype is also associated with decreased bone mineral density. [PMID 19561606] Note that the risk genotype is the most common in all populations.
| GWAS snp | |
|---|---|
| PMID | [PMID 19561606] |
| Trait | Kidney stones |
| Title | Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density |
| Risk Allele | C |
| P-val | 4E-12 |
| Odds Ratio | 1.25 [1.17-1.33] |
[PMID 22396660
] A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1
| ClinVar | |
|---|---|
| Risk | rs219780(A;A) |
| Alt | rs219780(A;A) |
| Reference | Rs219780(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | CLDN14 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive |
| Reversed | 1 |
| HGVS | NC_000021.8:g.37833307C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000037064.3, RCV000353929.1, |
[PMID 26554238] Rs219780 SNP of Claudin 14 Gene is not Related to Clinical Expression in Primary Hyperparathyroidism
[PMID 33052825] Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children.
