rs61749387
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Von Willebrand disease, type 2B |
| (T;T) | 3 | Von Willebrand disease, type 2B |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6019496 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749387 |
| dbSNP (classic) | rs61749387 |
| ClinGen | rs61749387 |
| ebi | rs61749387 |
| HLI | rs61749387 |
| Exac | rs61749387 |
| Gnomad | rs61749387 |
| Varsome | rs61749387 |
| LitVar | rs61749387 |
| Map | rs61749387 |
| PheGenI | rs61749387 |
| Biobank | rs61749387 |
| 1000 genomes | rs61749387 |
| hgdp | rs61749387 |
| ensembl | rs61749387 |
| geneview | rs61749387 |
| scholar | rs61749387 |
| rs61749387 | |
| pharmgkb | rs61749387 |
| gwascentral | rs61749387 |
| openSNP | rs61749387 |
| 23andMe | rs61749387 |
| SNPshot | rs61749387 |
| SNPdbe | rs61749387 |
| MSV3d | rs61749387 |
| GWAS Ctlg | rs61749387 |
| Max Magnitude | 3 |
rs61749387, also known as c.3922C>T, p.Arg1308Cys and R1308C, is a SNP in the VWF gene on chromosome 12.
The rare rs61749387(T) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.
| ClinVar | |
|---|---|
| Risk | Rs61749387(T;T) |
| Alt | Rs61749387(T;T) |
| Reference | Rs61749387(C;C) |
| Significance | Pathogenic |
| Disease | Von Willebrand disease not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease, type 2b not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6128662G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000313.2, RCV000086703.1, |
