{{Rsnum
|rsid=10516487
|Gene=BANK1
|Chromosome=4
|position=101829919
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2245
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=BANK1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 54.9 | 39.8 | 5.3
| HCB | 68.6 | 29.9 | 1.5
| JPT | 77.9 | 21.2 | 0.9
| YRI | 55.1 | 40.1 | 4.8
| ASW | 68.4 | 29.8 | 1.8
| CHB | 68.6 | 29.9 | 1.5
| CHD | 75.2 | 24.8 | 0.0
| GIH | 61.4 | 30.7 | 7.9
| LWK | 59.6 | 37.6 | 2.8
| MEX | 77.6 | 22.4 | 0.0
| MKK | 41.0 | 48.7 | 10.3
| TSI | 50.0 | 42.2 | 7.8
| HapMapRevision=28
}}

[[rs17266594]] [[rs10516487]] [[rs3733197]] gene associated with systemic [[lupus]] erythematosus.{{PMID|18204447}}

The association between [[rs10516487]] and [[lupus]] was replicated in a study of 1892 European-derived SLE patients and 2652 European-derived controls; the odds ratio observed was 1.22 (CI: 1.11-1.34, corrected p-value=2.59 x 10e-5).{{PMID|19339986|OA=1
}}

{{ neighbor
| rsid = 17266594
| distance = 154
}}

{{GWAS Summary
|SNP=rs10516487
|PubMedID=18204447
|Condition=Systemic lupus erythematosus
|Gene=BANK1
|Risk Allele=G
|pValue=4.00E-010
|OR=1.38
|95CI=1.25-1.53
}}

{{omim
|id=610292
|desc=B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1
|rsnum=10516487
}}
{{PMID Auto
|PMID=19644876
|Title=Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome
}}
{{PMID Auto
|PMID=19815934
|Title=BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
|OA=1
}}

{{PharmGKB
|RSID=rs10516487
|Name_s=
|Gene_s=BANK1
|Feature=
|Evidence=PubMed ID:18204447; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus (Initial Sample Size: 279 cases, 515 controls; Replication Sample Size: 1,757 cases, 1,540 controls; Risk Allele: rs10516487-G).
|Drugs=
|Drug Classes=
|Diseases=Lupus erythematosus; Lupus Erythematosus, Systemic
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356735
}}
{{PMID Auto
|PMID=19877059
|Title=BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4
}}

{{PharmGKB
|RSID=rs10516487
|Name_s=BANK1: R61H
|Gene_s=BANK1
|Feature=
|Evidence=PubMed ID:18204447
|Annotation=In a genome-wide scan an association between systemic lupus erythematosus and this nonsynonymous SNP in the BANK1 gene was identified.
|Drugs=
|Drug Classes=
|Diseases=Lupus Erythematosus, Systemic
|Curation Level=Curated
|PharmGKB Accession ID=PA161925607
}}
{{PMID Auto
|PMID=21208380
|Title=The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis
}}

{{omim
|id=610292
|rsnum=10516487
|variant=0001
}}

{{PMID Auto
|PMID=21900951
|Title=The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization
|OA=1
}}

{{PMID Auto
|PMID=21989138
|Title=Association analysis of BANK1 gene with psoriasis in Southern Han Chinese
}}

{{ClinVar
|rsid=10516487
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=102751076
|CHROM=4
|GMAF=0.2244
|dbSNPBuildID=119
|SSR=0
|SAO=1
|VP=0x05016800000017051f130100
|GENEINFO=BANK1:55024
|GENE_NAME=BANK1
|GENE_ID=55024
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.102751076G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.7755; 0.2245
|CLNACC=RCV000001331.1
|CLNDBN=Systemic lupus erythmatosus, association with
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=610292.0001
|COMMON=1
|Disease=Systemic lupus erythmatosus
}}

{{PMID Auto
|PMID=19180476
|Title=Study of functional variants of the BANK1 gene in rheumatoid arthritis.
}}

{{PMID Auto
|PMID=19357697
|Title=Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese.
|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=19849816
|Title=Genetics of rheumatic disease.
|OA=1
}}

{{PMID Auto
|PMID=19923204
|Title=Genetic background of systemic sclerosis: autoimmune genes take centre stage.
}}

{{PMID Auto
|PMID=20169177
|Title=Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=20472928
|Title=Role of BANK1 gene polymorphisms in biopsy-proven giant cell arteritis.
}}

{{PMID Auto
|PMID=21078628
|Title=Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese.
}}

{{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=21408207
|Title=Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
|OA=1
}}

{{GET Evidence
|gene=BANK1
|aa_change=Arg61His
|aa_change_short=R61H
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10516487
|overall_frequency_n=3049
|overall_frequency_d=10758
|overall_frequency=0.283417
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=31
|n_articles=1
|n_articles_annotated=1
|in_omim=Y
|in_gwas=Y
|in_pharmgkb=Y
|nblosum100=1
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23646104
|Title=Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=23406209
|Title=Association of ZAP70 and PTPN6, but Not BANK1 or CLEC2D, with inflammatory bowel disease in the Tunisian population.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}