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rs2903692

From SNPedia

Orientationplus
Stabilizedplus
Make rs2903692(A;A)
Make rs2903692(A;G)
Make rs2903692(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position11144926
GeneCLEC16A
is asnp
is mentioned by
dbSNPrs2903692
ebirs2903692
HLIrs2903692
Exacrs2903692
Varsomers2903692
Maprs2903692
PheGenIrs2903692
hapmaprs2903692
1000 genomesrs2903692
hgdprs2903692
ensemblrs2903692
gopubmedrs2903692
geneviewrs2903692
scholarrs2903692
googlers2903692
pharmgkbrs2903692
gwascentralrs2903692
openSNPrs2903692
23andMers2903692
23andMe allrs2903692
SNP Nexus

SNPshotrs2903692
SNPdbers2903692
MSV3drs2903692
GWAS Ctlgrs2903692
GMAF0.3058
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 18940880] rs2292399 and rs2903692 both significantly associated with type 1 diabetes odds ratio 1.37 and 1.28. A joint analysis revealed that rs3087243, rs2292399, and rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD
GWAS
SNP rs2903692
PubMedID [PMID 17632545]
Condition Type 1 diabetes
Gene KIAA0350
Risk Allele G
pValue 7.00E-011
OR 1.54
95% CI 1.32-1.79


[PMID 19317741] Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility

OMIM222100
DescDIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Relatedalso
OMIM611303
DescC-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
Variant
Relatedalso



[PMID 19221398] Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.


[PMID 19337309OA-icon.png] Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


GET Evidence
rs2903692
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.3125
summary