{{Rsnum
|rsid=17696736
|Gene=NAA25
|Chromosome=12
|position=112049014
|Orientation=plus
|GMAF=0.2025
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NAA25
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 41.6 | 45.1 | 13.3
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 84.2 | 14.0 | 1.8
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 78.2 | 19.8 | 2.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 65.5 | 31.0 | 3.4
| MKK | 0.0 | 0.0 | 0.0
| TSI | 22.5 | 53.9 | 23.5
| HapMapRevision=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|OA=1
}}

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 1.15â€“1.28). {{PMID|17554260|OA=1
}}

{{GWAS Summary
|SNP=rs17696736
|PubMedID=17554260
|Condition=Type 1 diabetes
|Gene=C12orf30
|Risk Allele=G
|pValue=2.00E-016
|OR=1.22
|95CI=1.15-1.28
|OA=1
}}

{{PMID Auto GWAS
|PMID=18978792
|Trait=Type 1 diabetes
|Title=Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
|RiskAllele=G
|Pval=6E-18
|OR=NR
|ORtxt=NR
|OA=1
}}

{{PMID Auto
|PMID=19565500
|Title=Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
|OA=1
}}

{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
|id=612520
|rsnum=17696736
}}

{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
|id=222100
|rsnum=17696736
}}

{{PharmGKB
|RSID=rs17696736
|Name_s=
|Gene_s=C12orf30
|Feature=
|Evidence=PubMed ID:18978792; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 12q24.13; Reported Gene(s): C12orf30; Risk Allele: rs17696736-G); (p-value= 0.000000000000000006).This variant is associated with Type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740756
}}

{{PharmGKB
|RSID=rs17696736
|Name_s=
|Gene_s=C12orf30
|Feature=
|Evidence=PubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: (see Todd 2007); Risk Allele: rs17696736-G). This variant is associated with type 1 disease.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356646
}}

{{PharmGKB
|RSID=rs17696736
|Name_s=
|Gene_s=C12orf30
|Feature=
|Evidence=PubMed ID:17554260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: 4,000 cases, 5,000 controls, 2,997 trios; Risk Allele: rs17696736-G).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356631
}}

{{PharmGKB
|RSID=rs17696736
|Name_s=
|Gene_s=C12orf30
|Feature=
|Evidence=PubMed ID:17554300
|Annotation=A genome-wide association study in 2,000 individuals for each of 7 major diseases and a shared set of 3,000 controls found an association of this SNP with type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 1
|Curation Level=Curated
|PharmGKB Accession ID=PA162355908
}}

{{PMID Auto
|PMID=18077426
|Title=Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.
|OA=1
}}

{{PMID Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=18423522
|Title=Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
|OA=1
}}

{{PMID Auto
|PMID=18533027
|Title=Worldwide population differentiation at disease-associated SNPs.
|OA=1
}}

{{PMID Auto
|PMID=18556337
|Title=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).
|OA=1
}}

{{PMID Auto
|PMID=18840781
|Title=Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19140132
|Title=Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
|OA=1
}}

{{PMID Auto
|PMID=19359276
|Title=Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
|OA=1
}}

{{PMID Auto
|PMID=19639606
|Title=Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
|OA=1
}}

{{PMID Auto
|PMID=19838195
|Title=A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=19956105
|Title=Reassessment of the type I diabetes association of the OAS1 locus.
|OA=1
}}

{{PMID Auto
|PMID=19956108
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20089178
|Title=Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20722033
|Title=The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17696736
|overall_frequency_n=25
|overall_frequency_d=128
|overall_frequency=0.195312
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=22
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23297363
|Title=Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
|OA=1
}}

{{PMID Auto GWAS
  |PMID=24262325
  |Trait=Ischemic stroke
  |Title=Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
  |RiskAllele=G
  |Pval=6E-8
  |OR=1.10
  |ORtxt=[1.06-1.14]
  }}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}