Rs17696736

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs17696736
PheGenI	rs17696736
nextbio	rs17696736
hapmap	rs17696736
1000 genomes	rs17696736
hgdp	rs17696736
ensembl	rs17696736
gopubmed	rs17696736
geneview	rs17696736
scholar	rs17696736
google	rs17696736
pharmgkb	rs17696736
gwascentral	rs17696736
openSNP	rs17696736
23andMe	rs17696736
23andMe all	rs17696736
SNP Nexus
SNPshot	rs17696736
SNPdbe	rs17696736
MSV3d	rs17696736

Gene

NAA25

Chromosome

12

Orientation

plus

GMAF

0.2024

Position

112486818

Reference

GRCh37 37.1/131

Max Magnitude

0

Geno	Mag	Summary
(A;A)	0	normal
(A;G)		1.3x risk
(G;G)		1.9x risk
(T;T)	0

?	(A;A) (A;G) (G;G)	28

rs17696736 has been reported in a large study to be associated with type-1 diabetes.

The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.34 (CI 1.16-1.53), and for homozygotes, 1.94 (CI 1.65-2.29). [PMID 17554300]

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 1.22 (CI 1.15–1.28). [PMID 17554260]

GWAS
SNP	rs17696736
PubMedID	[PMID 17554260]
Condition	Type 1 diabetes
Gene	C12orf30
Risk Allele	G
pValue	2.00E-016
OR	1.22
95% CI	1.15-1.28

GWAS snp
PMID	[PMID 18978792]
Trait	Type 1 diabetes
Title	Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
Risk Allele	G
P-val	6E-18
Odds Ratio	NR NR

[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis

OMIM	612520
Desc	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
Variant
Related	also

OMIM	222100
Desc	DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Related	also

[PMID 18077426] Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.

[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.

[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.

[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

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

[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

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

[PMID 19359276] 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 19639606] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.

[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

[PMID 19956105] Reassessment of the type I diabetes association of the OAS1 locus.

[PMID 19956108] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

[PMID 20089178] Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.

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

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

GET Evidence
rs17696736
aa_change
aa_change_short
impact	pathogenic
qualified_impact	Insufficiently evaluated pathogenic
overall_frequency	0.195312
summary