{{Rsnum
|rsid=6679677
|Gene=RSBN1
|Chromosome=1
|position=113761186
|Orientation=plus
|GMAF=0.04132
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=PHTF1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.9 | 21.2 | 77.9
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 3.5 | 96.5
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 1.0 | 99.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 1.7 | 5.2 | 93.1
| MKK | 0.0 | 0.6 | 99.4
| TSI | 0.0 | 11.8 | 88.2
| HapMapRevision=28
}}[[rs6679677]] has been reported in a large study to be associated with [[rheumatoid arthritis]].
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.98 (CI 1.72-2.27), and for homozygotes, 3.32 (CI 1.93-5.69). {{PMID|17554300|OA=1
}}

[[rs6679677]] was also reported in the same 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 1.82 (CI 1.59-2.09), and for homozygotes, 5.19 (CI 3.15-8.55). {{PMID|17554300|OA=1
}}

Recently (Feb 2008), it has been asserted that the association between [[rs6679677]] and [[type-1 diabetes]] is actually completely due to a closely linked, potentially causal variant identified as [[rs2476601]], which is also known as Arg620Trp. In this study, apparently the largest to date, the odds ratio for the risk allele (of [[rs6679677]]) was reported to be 1.88 (CI: 1.66-2.13).{{PMID|18305142}}

DeCode reports that the CC genotype is associated with 1.05x higher odds of [[Crohn's disease]]. {{PMID|18587394|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=A
|Pval=1E-40
|OR=NR
|ORtxt=NR
|OA=1
}}
{{PMID Auto GWAS
|PMID=18794853
|Trait=Rheumatoid arthritis
|Title=Common variants at CD40 and other loci confer risk of rheumatoid arthritis
|RiskAllele=
|Pval=6.0000000000000005E-42
|OR=1.79
|ORtxt=[1.65-1.94]
|OA=1
}}
{{PMID Auto GWAS
|PMID=17554260
|Trait=Type 1 diabetes
|Title=Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
|RiskAllele=A
|Pval=7.9999999999999994E-24
|OR=1.89
|ORtxt=[1.67-2.13]
|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
}}

{{PharmGKB
|RSID=rs6679677
|Name_s=
|Gene_s=PHTF1, RSBN1
|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: 1p13.2; Reported Gene(s): PTPN22; Risk Allele: rs6679677-A); (p-value= 1E-40).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=PA164740752
}}

{{PharmGKB
|RSID=rs6679677
|Name_s=
|Gene_s=PHTF1, RSBN1
|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=PA162355905
}}

{{PMID Auto
|PMID=22493691
|Title=Novel associations for hypothyroidism include known autoimmune risk Loci.
|OA=1
}}

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

{{PMID|18274536|OA=1
}} Genome-wide association studies: progress and potential for drug discovery and development.

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

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

{{PMID|19168599|OA=1
}} Type 1 diabetes in the BB rat: a polygenic disease.

{{PMID|19474294|OA=1
}} Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

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

{{PMID|19956648|OA=1
}} Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.

{{PMID|20017963|OA=1
}} Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.

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

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

{{PMID|20808825|OA=1
}} Novel association strategy with copy number variation for identifying new risk Loci of human diseases.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6679677
|overall_frequency_n=9
|overall_frequency_d=128
|overall_frequency=0.0703125
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23128233
  |Trait=Crohn's disease
  |Title=Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
  |RiskAllele=C
  |Pval=2E-15
  |OR=1.20
  |ORtxt=[1.129-1.268]
  |OA=1
}}

{{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}}