{{Rsnum
|rsid=4963128
|Gene=PHRF1
|Chromosome=11
|position=589564
|Orientation=minus
|GMAF=0.2966
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.1 | 49.5 | 42.3
| HCB | 0.7 | 7.5 | 91.8
| JPT | 0.0 | 4.4 | 95.6
| YRI | 28.4 | 44.7 | 27.0
| ASW | 8.9 | 58.9 | 32.1
| CHB | 0.7 | 7.5 | 91.8
| CHD | 0.0 | 11.2 | 88.8
| GIH | 6.0 | 39.0 | 55.0
| LWK | 21.8 | 53.6 | 24.5
| MEX | 12.1 | 50.0 | 37.9
| MKK | 21.9 | 44.5 | 33.5
| TSI | 13.7 | 50.0 | 36.3
| HapMapRevision=28
}}{{GWAS Summary
|SNP=rs4963128
|PubMedID=18204446
|Condition=Systemic lupus erythematosus in women
|Gene=KIAA1542
|Risk Allele=
|pValue=3.00E-010
|OR=1.28
|95CI=1.18-1.37
|OA=1
}}

{{PMID Auto
|PMID=19714582
|Title=Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
}}

{{PharmGKB
|RSID=rs4963128
|Name_s=
|Gene_s=PHRF1
|Feature=
|Evidence=PubMed ID:18204446; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci (Initial Sample Size: 720 cases, 2,337 controls; Replication Sample Size: 1,846 cases, 1,825 controls). This variant is associated with Systemic lupus erythematosus in women.
|Drugs=
|Drug Classes=
|Diseases=Lupus erythematosus; Lupus Erythematosus, Systemic
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356483
}}

{{PMID Auto
|PMID=20112359
|Title=Genetic variation at the IRF7/PHRF1 locus is associated with autoantibody profile and serum interferon-alpha activity in lupus patients
|OA=1
}}

{{PMID Auto
|PMID=21165897
|Title=Association of a functional IRF7 variant with systemic lupus erythematosus
}}

{{PMID Auto GWAS
|PMID=21408207
|Trait=None
|Title=Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production
|RiskAllele=
|Pval=0.000004
|OR=1.3300
|ORtxt=[1.18-1.49]
|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=19442287
|Title=Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
|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=21167895
|Title=Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population.
}}

{{PMID Auto
|PMID=21360504
|Title=Association of a functional IRF7 variant with systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=21379322
|Title=Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
|OA=1
}}

{{PMID Auto
|PMID=21926187
|Title=Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=22433914
|Title=Association of PHRF1-IRF7 region polymorphism with clinical manifestations of systemic lupus erythematosus in a Japanese population.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4963128
|overall_frequency_n=71
|overall_frequency_d=128
|overall_frequency=0.554688
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=59
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}