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rs4077515

From SNPedia

Orientationminus
Stabilizedminus
Make rs4077515(A;A)
Make rs4077515(A;G)
Make rs4077515(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position136372044
GeneCARD9
is asnp
is mentioned by
dbSNPrs4077515
ebirs4077515
HLIrs4077515
Exacrs4077515
Varsomers4077515
Maprs4077515
PheGenIrs4077515
hapmaprs4077515
1000 genomesrs4077515
hgdprs4077515
ensemblrs4077515
gopubmedrs4077515
geneviewrs4077515
scholarrs4077515
googlers4077515
pharmgkbrs4077515
gwascentralrs4077515
openSNPrs4077515
23andMers4077515
23andMe allrs4077515
SNP Nexus

SNPshotrs4077515
SNPdbers4077515
MSV3drs4077515
GWAS Ctlgrs4077515
GMAF0.3669
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 20228799OA-icon.png]
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 21102463OA-icon.png]
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 18439550OA-icon.png] Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

[PMID 20463747OA-icon.png] Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.

[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.


GET Evidence
CARD9-S12N
aa_change Ser12Asn
aa_change_short S12N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.374326
summary



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.