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Rs6908425

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 1.95x increased risk of developing Crohn's disease
(C;T) 1.5 1.63x increased risk of developing Crohn's disease
(T;T) 1 Normal risk of developing Crohn's disease
ReferenceGRCh38 38.1/141
Chromosome6
Position20728500
GeneCDKAL1
is asnp
is mentioned by
dbSNPrs6908425
ebirs6908425
Exacrs6908425
PheGenIrs6908425
hapmaprs6908425
1000 genomesrs6908425
hgdprs6908425
ensemblrs6908425
gopubmedrs6908425
geneviewrs6908425
scholarrs6908425
googlers6908425
pharmgkbrs6908425
gwascentralrs6908425
openSNPrs6908425
23andMers6908425
23andMe allrs6908425
SNP Nexus

SNPshotrs6908425
SNPdbers6908425
MSV3drs6908425
GWAS Ctlgrs6908425
GMAF0.2172
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs6908425 has been reported in a large study to be associated with Crohn's disease.

The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.63 (CI 1.38-2.25), and for homozygotes, 1.95 (CI 1.43-2.67). [PMID 17554300OA-icon.png]


[PMID 18923449OA-icon.png] Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22

GWAS snp
PMID [PMID 18587394OA-icon.png]
Trait Crohn's disease
Title Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
Risk Allele C
P-val 8.9999999999999999E-10
Odds Ratio 1.21 [NR]


[PMID 19587699] Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes

OMIM177900
Desc
Variant
Relatedalso
[PMID 19068216OA-icon.png] Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.


[PMID 19422935] Genetic risk profiling and prediction of disease course in Crohn's disease patients.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19638187OA-icon.png] Genetic susceptibility to psoriasis: an emerging picture.


[PMID 19915572OA-icon.png] Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.


[PMID 20518082OA-icon.png] Role of genetics in prediction of disease course and response to therapy.


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


GET Evidence
rs6908425
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.820312
summary



GWAS snp
PMID [PMID 21102463OA-icon.png]
Trait Crohn's disease
Title Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Risk Allele C
P-val 1E-8
Odds Ratio 1.17 [1.11-1.23]


[PMID 26563541] CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients