Rs17388568

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Orientationplus
Geno Mag Summary
(A;A) 1.6x risk
(A;G) 1.3x risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome4
Position122408207
GeneADAD1
is asnp
is mentioned by
dbSNPrs17388568
PheGenIrs17388568
nextbiors17388568
hapmaprs17388568
1000 genomesrs17388568
hgdprs17388568
ensemblrs17388568
gopubmedrs17388568
geneviewrs17388568
scholarrs17388568
googlers17388568
pharmgkbrs17388568
gwascentralrs17388568
openSNPrs17388568
23andMers17388568
23andMe allrs17388568
SNP Nexus

SNPshotrs17388568
SNPdbers17388568
MSV3drs17388568
GMAF0.1726
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs17388568 has been reported in a large study to be associated with type-1 diabetes.

The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.26 (CI 1.11-1.42), and for homozygotes, 1.58 (CI 1.27-1.95). [PMID 17554300OA-icon.png]

In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.11 (CI 1.05–1.18). [PMID 17554260OA-icon.png]

GWAS
SNP rs17388568
PubMedID [PMID 17554300OA-icon.png]
Condition Type 1 diabetes
Gene NR
Risk Allele A
pValue 3.00E-006
OR 1.26
95% CI 1.11-1.42


OMIM612622
DescDIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23
Variant
Relatedalso
OMIM222100
DescDIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Relatedalso
[PMID 20184734OA-icon.png] The 4q27 locus and familial prostate cancer risk


[PMID 20553587OA-icon.png] Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: Confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance

GWAS snp
PMID [PMID 21297633OA-icon.png]
Trait
Title Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Risk Allele A
P-val 9E-7
Odds Ratio 1.1200 [1.07-1.17]
GWAS snp
PMID [PMID 21829393OA-icon.png]
Trait
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele A
P-val 0.000006
Odds Ratio 1.1000 [NR]


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[PMID 19140132OA-icon.png] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.


[PMID 19201773OA-icon.png] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis.


[PMID 19359276OA-icon.png] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.


[PMID 19639606OA-icon.png] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.


[PMID 20722033OA-icon.png] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.


[PMID 21875375] Study of polymorphisms in 4q27, 10p15, and 22q13 regions in autoantibodies stratified type 1 diabetes patients.


GET Evidence
rs17388568
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.179688
summary



GWAS snp
PMID [PMID 23817569OA-icon.png]
Trait Self-reported allergy
Title A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
Risk Allele A
P-val 4E-8
Odds Ratio .07 [0.047-0.099] unit increase