rs113831133
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113831133(A;A) |
Make rs113831133(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 36461685 |
Gene | CLDN14, LOC105369301 |
is a | snp |
is | mentioned by |
dbSNP | rs113831133 |
dbSNP (classic) | rs113831133 |
ClinGen | rs113831133 |
ebi | rs113831133 |
HLI | rs113831133 |
Exac | rs113831133 |
Gnomad | rs113831133 |
Varsome | rs113831133 |
LitVar | rs113831133 |
Map | rs113831133 |
PheGenI | rs113831133 |
Biobank | rs113831133 |
1000 genomes | rs113831133 |
hgdp | rs113831133 |
ensembl | rs113831133 |
geneview | rs113831133 |
scholar | rs113831133 |
rs113831133 | |
pharmgkb | rs113831133 |
gwascentral | rs113831133 |
openSNP | rs113831133 |
23andMe | rs113831133 |
SNPshot | rs113831133 |
SNPdbe | rs113831133 |
MSV3d | rs113831133 |
GWAS Ctlg | rs113831133 |
GMAF | 0.0326 |
Max Magnitude | 0 |
[PMID 23991001] Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion
ClinVar | |
---|---|
Risk | rs113831133(A;A) |
Alt | rs113831133(A;A) |
Reference | Rs113831133(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | CLDN14 |
CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive |
Reversed | 0 |
HGVS | NC_000021.8:g.37833983G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037059.3, RCV000290022.1, |