|
rs219780
|
CLDN14;LOC105369301
|
Kidney Calculi
|
|
0.810 |
GeneticVariation |
BEFREE |
In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.
|
26107257 |
2015 |
|
rs219780
|
CLDN14;LOC105369301
|
Kidney Calculi
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs219780
|
CLDN14;LOC105369301
|
Kidney Calculi
|
C |
0.810 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs368027306
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
|
23235333 |
2013 |
|
rs74315437
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
|
23235333 |
2013 |
|
rs368027306
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
|
22246673 |
2012 |
|
rs74315437
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
|
22246673 |
2012 |
|
rs368027306
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
|
11163249 |
2001 |
|
rs74315437
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
|
11163249 |
2001 |
|
rs368027306
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs74315437
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs786204841
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs786204841
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs786204841
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs219778
|
CLDN14;LOC105369301
|
Kidney Calculi
|
|
0.710 |
GeneticVariation |
BEFREE |
In conclusion, rs1801725, rs1042636, rs219778 and rs219780 SNPs were associated with kidney stone risk in patients from the eastern part of India.
|
26107257 |
2015 |
|
rs219778
|
CLDN14;LOC105369301
|
Kidney Calculi
|
|
0.710 |
GeneticVariation |
GWASDB |
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
|
19561606 |
2009 |
|
rs128494
|
CLDN14;LOC105369301
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs128494
|
CLDN14;LOC105369301
|
Glomerular Filtration Rate
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
|
31015462 |
2019 |
|
rs219778
|
CLDN14;LOC105369301
|
Blood urea nitrogen measurement
|
A |
0.700 |
GeneticVariation |
GWASCAT |
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
|
31152163 |
2019 |
|
rs219781
|
CLDN14;LOC105369301
|
Uric acid measurement (procedure)
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
|
31578528 |
2019 |
|
rs7277076
|
CLDN14;LOC105369301
|
Urolithiasis
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.
|
30975718 |
2019 |
|
rs128494
|
CLDN14;LOC105369301
|
Glomerular Filtration Rate
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
rs7277076
|
CLDN14;LOC105369301
|
Bone Density
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
|
29304378 |
2018 |
|
rs143797113
|
CLDN14;LOC105369301
|
DEAFNESS, AUTOSOMAL RECESSIVE 29
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
|
27838790 |
2017 |
|
rs219779
|
CLDN14;LOC105369301
|
Parathyroid hormone measurement
|
G |
0.700 |
GeneticVariation |
GWASCAT |
The other SNPs associated with serum PTH concentration included rs4074995 within <i>RGS14</i> (<i>P</i>=6.6 × 10<sup>-17</sup>), rs219779 adjacent to <i>CLDN14</i> (<i>P</i>=3.5 × 10<sup>-16</sup>), rs4443100 near <i>RTDR1</i> (<i>P</i>=8.7 × 10<sup>-9</sup>), and rs73186030 near <i>CASR</i> (<i>P</i>=4.8 × 10<sup>-8</sup>).
|
27927781 |
2017 |