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rs219780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs219780(A;A)
Make rs219780(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position36461009
GeneCLDN14
is asnp
is mentioned by
dbSNPrs219780
ebirs219780
HLIrs219780
Exacrs219780
Varsomers219780
Maprs219780
PheGenIrs219780
hapmaprs219780
1000 genomesrs219780
hgdprs219780
ensemblrs219780
gopubmedrs219780
geneviewrs219780
scholarrs219780
googlers219780
pharmgkbrs219780
gwascentralrs219780
openSNPrs219780
23andMers219780
23andMe allrs219780
SNP Nexus

SNPshotrs219780
SNPdbers219780
MSV3drs219780
GWAS Ctlgrs219780
GMAF0.1515
Max Magnitude0
? (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]
OMIM605608
Desc
Variant
Relatedalso
[PMID 22396660OA-icon.png] A Genome-Wide Association Study of Nephrolithiasis in the Japanese Population Identifies Novel Susceptible Loci at 5q35.3, 7p14.3, and 13q14.1


GET Evidence
rs219780
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.224949
summary



ClinVar
Risk rs219780(A;A)
Alt rs219780(A;A)
Reference rs219780(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CLDN14
CLNDBN not specified
Reversed 1
HGVS NC_000021.8:g.37833307C>T
CLNSRC ClinVar
CLNACC RCV000037064.2,



[PMID 26554238] Rs219780 SNP of Claudin 14 Gene is not Related to Clinical Expression in Primary Hyperparathyroidism