rs587781260
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587781260(C;C) |
Make rs587781260(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 32250842 |
Gene | NLRC4 |
is a | snp |
is | mentioned by |
dbSNP | rs587781260 |
dbSNP (classic) | rs587781260 |
ClinGen | rs587781260 |
ebi | rs587781260 |
HLI | rs587781260 |
Exac | rs587781260 |
Gnomad | rs587781260 |
Varsome | rs587781260 |
LitVar | rs587781260 |
Map | rs587781260 |
PheGenI | rs587781260 |
Biobank | rs587781260 |
1000 genomes | rs587781260 |
hgdp | rs587781260 |
ensembl | rs587781260 |
geneview | rs587781260 |
scholar | rs587781260 |
rs587781260 | |
pharmgkb | rs587781260 |
gwascentral | rs587781260 |
openSNP | rs587781260 |
23andMe | rs587781260 |
SNPshot | rs587781260 |
SNPdbe | rs587781260 |
MSV3d | rs587781260 |
GWAS Ctlg | rs587781260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781260(C;C) |
Alt | rs587781260(C;C) |
Reference | Rs587781260(T;T) |
Significance | Pathogenic |
Disease | Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Autoinflammation with infantile enterocolitis not provided |
Variation | info |
Gene | NLRC4 |
CLNDBN | Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Autoinflammation with infantile enterocolitis not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.32475911A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000132764.1, RCV000144517.3, RCV000434682.1, |