rs4077515
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs4077515(A;A) |
Make rs4077515(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 136372044 |
Gene | CARD9 |
is a | snp |
is | mentioned by |
dbSNP | rs4077515 |
dbSNP (classic) | rs4077515 |
ClinGen | rs4077515 |
ebi | rs4077515 |
HLI | rs4077515 |
Exac | rs4077515 |
Gnomad | rs4077515 |
Varsome | rs4077515 |
LitVar | rs4077515 |
Map | rs4077515 |
PheGenI | rs4077515 |
Biobank | rs4077515 |
1000 genomes | rs4077515 |
hgdp | rs4077515 |
ensembl | rs4077515 |
geneview | rs4077515 |
scholar | rs4077515 |
rs4077515 | |
pharmgkb | rs4077515 |
gwascentral | rs4077515 |
openSNP | rs4077515 |
23andMe | rs4077515 |
SNPshot | rs4077515 |
SNPdbe | rs4077515 |
MSV3d | rs4077515 |
GWAS Ctlg | rs4077515 |
GMAF | 0.3669 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 20228799![]() |
Trait | Ulcerative colitis |
Title | Genome-wide association identifies multiple ulcerative colitis susceptibility loci |
Risk Allele | C |
P-val | 5E-8 |
Odds Ratio | 1.14 [NR] |
GWAS snp | |
---|---|
PMID | [PMID 21102463![]() |
Trait | |
Title | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci |
Risk Allele | T |
P-val | 1E-36 |
Odds Ratio | 1.1800 [1.13-1.22] |
[PMID 18439550] Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.
[PMID 20463747] Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.
[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
[PMID 5652722] The interaction effect of rs4077515 and rs17019602 increases the susceptibility to IgA nephropathy
GWAS snp | |
---|---|
PMID | [PMID 22936669] |
Trait | Crohn's disease |
Title | A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. |
Risk Allele | T |
P-val | 4E-6 |
Odds Ratio | 1.29 [NR] |
[PMID 22957492] Pathway analysis of a genome-wide association study of ileal Crohn's disease.
ClinVar | |
---|---|
Risk | rs4077515(A;A) |
Alt | rs4077515(A;A) |
Reference | Rs4077515(G;G) |
Significance | Non-pathogenic |
Disease | Familial Candidiasis not specified |
Variation | info |
Gene | CARD9 DNLZ |
CLNDBN | Familial Candidiasis, Recessive not specified |
Reversed | 1 |
HGVS | NC_000009.11:g.139266496C>T |
CLNSRC | |
CLNACC | RCV000408113.1, RCV000454561.1, |
[PMID 31595308] A CARD9 single-nucleotide polymorphism rs4077515 is associated with reduced susceptibility to and severity of primary immune thrombocytopenia.