rs180177431
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs180177431(C;C) |
Make rs180177431(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 247424363 |
Gene | NLRP3 |
is a | snp |
is | mentioned by |
dbSNP | rs180177431 |
dbSNP (classic) | rs180177431 |
ClinGen | rs180177431 |
ebi | rs180177431 |
HLI | rs180177431 |
Exac | rs180177431 |
Gnomad | rs180177431 |
Varsome | rs180177431 |
LitVar | rs180177431 |
Map | rs180177431 |
PheGenI | rs180177431 |
Biobank | rs180177431 |
1000 genomes | rs180177431 |
hgdp | rs180177431 |
ensembl | rs180177431 |
geneview | rs180177431 |
scholar | rs180177431 |
rs180177431 | |
pharmgkb | rs180177431 |
gwascentral | rs180177431 |
openSNP | rs180177431 |
23andMe | rs180177431 |
SNPshot | rs180177431 |
SNPdbe | rs180177431 |
MSV3d | rs180177431 |
GWAS Ctlg | rs180177431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177431(C;C) |
Alt | rs180177431(C;C) |
Reference | Rs180177431(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial cold urticaria not provided |
Variation | info |
Gene | NLRP3 |
CLNDBN | Familial cold urticaria not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.247587665T>C |
CLNSRC | |
CLNACC | RCV000084244.1, RCV000221611.2, |