rs1800215
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (C;C) | 0 | |
| (G;G) | 0 | common in complete genomics |
| Make rs1800215(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50188134 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800215 |
| dbSNP (classic) | rs1800215 |
| ClinGen | rs1800215 |
| ebi | rs1800215 |
| HLI | rs1800215 |
| Exac | rs1800215 |
| Gnomad | rs1800215 |
| Varsome | rs1800215 |
| LitVar | rs1800215 |
| Map | rs1800215 |
| PheGenI | rs1800215 |
| Biobank | rs1800215 |
| 1000 genomes | rs1800215 |
| hgdp | rs1800215 |
| ensembl | rs1800215 |
| geneview | rs1800215 |
| scholar | rs1800215 |
| rs1800215 | |
| pharmgkb | rs1800215 |
| gwascentral | rs1800215 |
| openSNP | rs1800215 |
| 23andMe | rs1800215 |
| SNPshot | rs1800215 |
| SNPdbe | rs1800215 |
| MSV3d | rs1800215 |
| GWAS Ctlg | rs1800215 |
| GMAF | 0.02388 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 15113403
] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
[PMID 15157284] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 18996919] Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
[PMID 19152976] Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
| ClinVar | |
|---|---|
| Risk | Rs1800215(G;G) |
| Alt | Rs1800215(G;G) |
| Reference | Rs1800215(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000017.10:g.48265495T\x3d; NC_000017.10:g.48265495T>C |
| CLNSRC | |
| CLNACC | RCV000439178.1, RCV000341625.1, |
