rs3753841
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3753841(C;T) |
| Make rs3753841(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 102914362 |
| Gene | COL11A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3753841 |
| dbSNP (classic) | rs3753841 |
| ClinGen | rs3753841 |
| ebi | rs3753841 |
| HLI | rs3753841 |
| Exac | rs3753841 |
| Gnomad | rs3753841 |
| Varsome | rs3753841 |
| LitVar | rs3753841 |
| Map | rs3753841 |
| PheGenI | rs3753841 |
| Biobank | rs3753841 |
| 1000 genomes | rs3753841 |
| hgdp | rs3753841 |
| ensembl | rs3753841 |
| geneview | rs3753841 |
| scholar | rs3753841 |
| rs3753841 | |
| pharmgkb | rs3753841 |
| gwascentral | rs3753841 |
| openSNP | rs3753841 |
| 23andMe | rs3753841 |
| SNPshot | rs3753841 |
| SNPdbe | rs3753841 |
| MSV3d | rs3753841 |
| GWAS Ctlg | rs3753841 |
| GMAF | 0.4674 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 22922875 ]
|
| Trait | Glaucoma (primary open-angle) |
| Title | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. |
| Risk Allele | G |
| P-val | 9E-10 |
| Odds Ratio | 1.20 [NR] |
[PMID 23847314] Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure
[PMID 17697348] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
[PMID 17999364] A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
[PMID 23505305] Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study.
[PMID 23624467] Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
[PMID 24854855] Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population
[PMID 25785070] A common genetic variant as an effect modifier for primary angle closure glaucoma
[PMID 26268645] [Statistical model analysis of primary angle closure glaucoma associated genes and SNP]
| ClinVar | |
|---|---|
| Risk | rs3753841(T;T) |
| Alt | rs3753841(T;T) |
| Reference | Rs3753841(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Stickler Syndrome Fibrochondrogenesis Marshall syndrome |
| Variation | info |
| Gene | COL11A1 |
| CLNDBN | not specified Stickler Syndrome, Dominant Fibrochondrogenesis Marshall syndrome |
| Reversed | 1 |
| HGVS | NC_000001.10:g.103379918G>A |
| CLNSRC | |
| CLNACC | RCV000247078.2, RCV000270271.1, RCV000328768.1, RCV000364819.1, |
[PMID 32682838] Evaluation of primary angle closure glaucoma susceptibility loci for estimating angle closure disease severity.
