PhenoModifier-Variant Detail

Variant "CARD9:c.35G>A(p.Ser12Asn)"

Search result: 1 record

Variant information

Gene:

CARD9

Variant:

CARD9:c.35G>A(p.Ser12Asn)

Genomic location:

chr9:139266496(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_052813.4:c.35G>A(p.Ser12Asn)
protein_coding	NM_052814.3:c.35G>A(p.Ser12Asn)
protein_coding	NM_003086.3:c.*4312G>A

dbSNP ID:

rs4077515

GWAS trait:

IGA glomerulonephritis,Crohn's disease,ulcerative colitis,inflammatory bowel disease

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Penetrance(1)

Modifier effect:

Altered incidence(1)

Detail：

Target disease:

Crohn's Disease (DOID_8778)

Effect type:

Penetrance

Modifier effect:

Altered incidence

Evidence:

P<1×10(-16), OR=0.29

Effect:

Conferring protection against Crohn’s disease with predicted transcript

Reference:

PMID21983784

Title:

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Species studied:

Human

Abstract:

More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.