rs1048971
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1048971(A;A) |
| Make rs1048971(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 207472977 |
| Gene | CR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1048971 |
| dbSNP (classic) | rs1048971 |
| ClinGen | rs1048971 |
| ebi | rs1048971 |
| HLI | rs1048971 |
| Exac | rs1048971 |
| Gnomad | rs1048971 |
| Varsome | rs1048971 |
| LitVar | rs1048971 |
| Map | rs1048971 |
| PheGenI | rs1048971 |
| Biobank | rs1048971 |
| 1000 genomes | rs1048971 |
| hgdp | rs1048971 |
| ensembl | rs1048971 |
| geneview | rs1048971 |
| scholar | rs1048971 |
| rs1048971 | |
| pharmgkb | rs1048971 |
| gwascentral | rs1048971 |
| openSNP | rs1048971 |
| 23andMe | rs1048971 |
| SNPshot | rs1048971 |
| SNPdbe | rs1048971 |
| MSV3d | rs1048971 |
| GWAS Ctlg | rs1048971 |
| GMAF | 0.4022 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19387458
] Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing
[PMID 17360460] Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.
[PMID 21347408] Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.
| ClinVar | |
|---|---|
| Risk | rs1048971(A;A) |
| Alt | rs1048971(A;A) |
| Reference | Rs1048971(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | CR2 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.207646322G>A |
| CLNSRC | |
| CLNACC | RCV000454637.1, |
