Rs1701704

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Orientationminus
Make rs1701704(A;A)
Make rs1701704(A;C)
Make rs1701704(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position56018703
GeneIKZF4
is asnp
is mentioned by
dbSNPrs1701704
Exacrs1701704
PheGenIrs1701704
nextbiors1701704
hapmaprs1701704
1000 genomesrs1701704
hgdprs1701704
ensemblrs1701704
gopubmedrs1701704
geneviewrs1701704
scholarrs1701704
googlers1701704
pharmgkbrs1701704
gwascentralrs1701704
openSNPrs1701704
23andMers1701704
23andMe allrs1701704
SNP Nexus

SNPshotrs1701704
SNPdbers1701704
MSV3drs1701704
GMAF0.2397
? (A;A) (A;C) (C;C) 28
GWAS
SNP rs1701704
PubMedID [PMID 18198356]
Condition Type 1 diabetes
Gene RAB5B, SUOX, IKZF4, ERBB3, CDK2
Risk Allele C
pValue 9.00E-010
OR 1.25
95% CI 1.12-1.40



GWAS snp
PMID [PMID 20596022OA-icon.png]
Trait Alopecia areata
Title Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
Risk Allele C
P-val 3E-8
Odds Ratio 1.34 [1.21-1.48]
GWAS snp
PMID [PMID 21804548]
Trait
Title Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
Risk Allele G
P-val 2E-13
Odds Ratio 1.1900 [1.14-1.25]
GWAS snp
PMID [PMID 21829393OA-icon.png]
Trait
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele T
P-val 5E-18
Odds Ratio 1.2500 [NR]


[PMID 18840781OA-icon.png] Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.


[PMID 20668683OA-icon.png] Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.


GET Evidence
rs1701704
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.195312
summary



[PMID 23721563] Associations of polymorphisms in non-HLA loci with autoantibodies at the diagnosis of type 1 diabetes: INS and IKZF4 associate with insulin autoantibodies


[PMID 23028483OA-icon.png] Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.