{{Rsnum
|rsid=1049550
|Gene=ANXA11
|Chromosome=10
|position=81926702
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.4247
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 36.3 | 46.9 | 16.8
| HCB | 11.0 | 43.4 | 45.6
| JPT | 10.6 | 46.0 | 43.4
| YRI | 67.1 | 32.2 | 0.7
| ASW | 69.6 | 26.8 | 3.6
| CHB | 11.0 | 43.4 | 45.6
| CHD | 8.3 | 45.9 | 45.9
| GIH | 48.5 | 37.6 | 13.9
| LWK | 78.0 | 20.2 | 1.8
| MEX | 35.1 | 47.4 | 17.5
| MKK | 54.5 | 35.9 | 9.6
| TSI | 32.4 | 51.0 | 16.7
| HapMapRevision=28
}}[[rs1049550]], also known as R230C, is a SNP in the annexin A11 [[ANXA11]] gene.

{{PMID|18690218}} 499 German individuals with [[sarcoidosis]] and 490 controls; Validation in an independent sample 1,649 cases, 1,832 controls. [[rs2789679]]: P = 3.0 x 10(-13), [[rs7091565]]: P = 1.0 x 10(-5)[[rs1049550]], T > C, R230C was found to be strongly associated with [[sarcoidosis]].

{{PMID|19165924}}  [[rs2789679]] P = 3.0 x 10(-13), [[rs7091565]]: P = 1.0 x 10(-5), allele-based test). Extensive fine mapping located the association signal to a region between exon 5 and exon 14 of ANXA11. A common nonsynonymous SNP ([[rs1049550]], T > C, R230C) was found to be strongly associated with [[sarcoidosis]]

Note that several [[ANXA11]] SNPs are all tightly linked: [[rs1953600]], [[rs2573346]], [[rs2784773]] and [[rs1049550]].

{{omim
|desc=SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3
|id=612388
|rsnum=1049550
}}

{{omim
|id=602572
|desc=ANNEXIN A11; ANXA11
|rsnum=1049550
}}

{{PharmGKB
|RSID=rs1049550
|Name_s=ANXA11: T > C, R230C
|Gene_s=ANXA11
|Feature=
|Evidence=PubMed ID:18690218
|Annotation=A genome-wide association study in 499 German individuals with sarcoidosis and 490 controls found a strong association of this nonsynonymous SNP in the ANXA11 gene with sarcoidosis.
|Drugs=
|Drug Classes=
|Diseases=Sarcoidosis
|Curation Level=Curated
|PharmGKB Accession ID=PA162355591
}}

{{PMID Auto
|PMID=21239504
|Title=Novel Chemosensitive Single-Nucleotide Polymorphism Markers to Targeted Regimens in Metastatic Colorectal Cancer
}}

{{PMID Auto
|PMID=17708757
|Title=Genome bioinformatic analysis of nonsynonymous SNPs.
|OA=1
}}

{{PMID Auto
|PMID=20205905
|Title=Association of repeatedly measured intermediate risk factors for complex diseases with high dimensional SNP data.
|OA=1
}}

{{GET Evidence
|gene=ANXA11
|aa_change=Arg230Cys
|aa_change_short=R230C
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1049550
|overall_frequency_n=3663
|overall_frequency_d=10756
|overall_frequency=0.340554
|n_genomes=35
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|pph2_score=1.0
|nblosum100=8
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23151485
|Title=Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans
|OA=1
}}

{{PMID Auto
|PMID=23152861
|Title=IL12RB2 Gene Is Associated with the Age of Type 1 Diabetes Onset in Croatian Family Trios
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}