Rs1049550
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1049550 |
| PheGenI | rs1049550 |
| nextbio | rs1049550 |
| hapmap | rs1049550 |
| 1000 genomes | rs1049550 |
| hgdp | rs1049550 |
| ensembl | rs1049550 |
| gopubmed | rs1049550 |
| geneview | rs1049550 |
| scholar | rs1049550 |
| rs1049550 | |
| pharmgkb | rs1049550 |
| gwascentral | rs1049550 |
| openSNP | rs1049550 |
| 23andMe | rs1049550 |
| 23andMe all | rs1049550 |
| SNP Nexus | |
| SNPshot | rs1049550 |
| SNPdbe | rs1049550 |
| MSV3d | rs1049550 |
| Gene | ANXA11 |
| Chromosome | 10 |
| Orientation | minus |
| GMAF | 0.4245 |
| Position | 81926702 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;T) | 0.62x reduced risk for sarcoidosis | |
| (T;T) | 0.62x reduced risk for sarcoidosis |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
[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.
[PMID 21239504] Novel Chemosensitive Single-Nucleotide Polymorphism Markers to Targeted Regimens in Metastatic Colorectal Cancer
[PMID 17708757] Genome bioinformatic analysis of nonsynonymous SNPs.
[PMID 20205905] Association of repeatedly measured intermediate risk factors for complex diseases with high dimensional SNP data.
| GET Evidence | |
|---|---|
| ANXA11-R230C | |
| aa_change | Arg230Cys |
| aa_change_short | R230C |
| impact | pharmacogenetic |
| qualified_impact | Insufficiently evaluated pharmacogenetic |
| overall_frequency | 0.340554 |
| summary | |
[PMID 23151485] Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans
[PMID 23152861] IL12RB2 Gene Is Associated with the Age of Type 1 Diabetes Onset in Croatian Family Trios
