rs41309132
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41309132(C;C) |
| Make rs41309132(C;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 5 |
| Position | 177409584 |
| Gene | F12, SLC34A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41309132 |
| dbSNP (classic) | rs41309132 |
| ClinGen | rs41309132 |
| ebi | rs41309132 |
| HLI | rs41309132 |
| Exac | rs41309132 |
| Gnomad | rs41309132 |
| Varsome | rs41309132 |
| LitVar | rs41309132 |
| Map | rs41309132 |
| PheGenI | rs41309132 |
| Biobank | rs41309132 |
| 1000 genomes | rs41309132 |
| hgdp | rs41309132 |
| ensembl | rs41309132 |
| geneview | rs41309132 |
| scholar | rs41309132 |
| rs41309132 | |
| pharmgkb | rs41309132 |
| gwascentral | rs41309132 |
| openSNP | rs41309132 |
| 23andMe | rs41309132 |
| SNPshot | rs41309132 |
| SNPdbe | rs41309132 |
| MSV3d | rs41309132 |
| GWAS Ctlg | rs41309132 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs41309132(C;C) |
| Alt | rs41309132(C;C) |
| Reference | Rs41309132(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Reduced factor XII activity Hereditary Angioedema |
| Variation | info |
| Gene | F12 |
| CLNDBN | Reduced factor XII activity Hereditary Angioedema |
| Reversed | 1 |
| HGVS | NC_000005.9:g.176836585C>G |
| CLNSRC | |
| CLNACC | RCV000317529.1, RCV000372080.1, |
