rs151344629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151344629(C;T) |
Make rs151344629(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 247424492 |
Gene | NLRP3 |
is a | snp |
is | mentioned by |
dbSNP | rs151344629 |
dbSNP (classic) | rs151344629 |
ClinGen | rs151344629 |
ebi | rs151344629 |
HLI | rs151344629 |
Exac | rs151344629 |
Gnomad | rs151344629 |
Varsome | rs151344629 |
LitVar | rs151344629 |
Map | rs151344629 |
PheGenI | rs151344629 |
Biobank | rs151344629 |
1000 genomes | rs151344629 |
hgdp | rs151344629 |
ensembl | rs151344629 |
geneview | rs151344629 |
scholar | rs151344629 |
rs151344629 | |
pharmgkb | rs151344629 |
gwascentral | rs151344629 |
openSNP | rs151344629 |
23andMe | rs151344629 |
SNPshot | rs151344629 |
SNPdbe | rs151344629 |
MSV3d | rs151344629 |
GWAS Ctlg | rs151344629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151344629(T;T) |
Alt | rs151344629(T;T) |
Reference | Rs151344629(C;C) |
Significance | Pathogenic |
Disease | Familial cold urticaria not provided Familial amyloid nephropathy with urticaria AND deafness |
Variation | info |
Gene | NLRP3 |
CLNDBN | Familial cold urticaria not provided Familial amyloid nephropathy with urticaria AND deafness |
Reversed | 0 |
HGVS | NC_000001.10:g.247587794C>T |
CLNSRC | |
CLNACC | RCV000084167.1, RCV000214584.2, RCV000449533.1, |