rs7525979
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs7525979(C;T) |
Make rs7525979(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 247424106 |
Gene | NLRP3 |
is a | snp |
is | mentioned by |
dbSNP | rs7525979 |
dbSNP (classic) | rs7525979 |
ClinGen | rs7525979 |
ebi | rs7525979 |
HLI | rs7525979 |
Exac | rs7525979 |
Gnomad | rs7525979 |
Varsome | rs7525979 |
LitVar | rs7525979 |
Map | rs7525979 |
PheGenI | rs7525979 |
Biobank | rs7525979 |
1000 genomes | rs7525979 |
hgdp | rs7525979 |
ensembl | rs7525979 |
geneview | rs7525979 |
scholar | rs7525979 |
rs7525979 | |
pharmgkb | rs7525979 |
gwascentral | rs7525979 |
openSNP | rs7525979 |
23andMe | rs7525979 |
SNPshot | rs7525979 |
SNPdbe | rs7525979 |
MSV3d | rs7525979 |
GWAS Ctlg | rs7525979 |
GMAF | 0.1226 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 24145812] [Corrigendum] Polymorphisms in the NLRP3 gene and risk of primary gouty arthritis
[PMID 18576390] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
ClinVar | |
---|---|
Risk | rs7525979(G;G) rs7525979(T;T) |
Alt | rs7525979(G;G) rs7525979(T;T) |
Reference | Rs7525979(C;C) |
Significance | Non-pathogenic |
Disease | not specified Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome Chronic infantile neurological |
Variation | info |
Gene | NLRP3 |
CLNDBN | not specified Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome Chronic infantile neurological, cutaneous and articular syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.247587408C>T |
CLNSRC | |
CLNACC | RCV000253525.1, RCV000276738.1, RCV000334195.1, RCV000369011.1, |
[PMID 30131971] NLRP3 expression in mesencephalic neurons and characterization of a rare NLRP3 polymorphism associated with decreased risk of Parkinson's disease.