rs61749398
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Von Willebrand disease, type 2M |
| (A;G) | 3.5 | von Willebrand disease |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6019448 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749398 |
| dbSNP (classic) | rs61749398 |
| ClinGen | rs61749398 |
| ebi | rs61749398 |
| HLI | rs61749398 |
| Exac | rs61749398 |
| Gnomad | rs61749398 |
| Varsome | rs61749398 |
| LitVar | rs61749398 |
| Map | rs61749398 |
| PheGenI | rs61749398 |
| Biobank | rs61749398 |
| 1000 genomes | rs61749398 |
| hgdp | rs61749398 |
| ensembl | rs61749398 |
| geneview | rs61749398 |
| scholar | rs61749398 |
| rs61749398 | |
| pharmgkb | rs61749398 |
| gwascentral | rs61749398 |
| openSNP | rs61749398 |
| 23andMe | rs61749398 |
| SNPshot | rs61749398 |
| SNPdbe | rs61749398 |
| MSV3d | rs61749398 |
| GWAS Ctlg | rs61749398 |
| Max Magnitude | 3.5 |
rs61749398, also known as c.3970G>A, p.Gly1324Ser and G1324S, is a SNP in the VWF gene on chromosome 12.
The rare rs61749398(A) allele is considered pathogenic for Von Willebrand disease, type 2M, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049157 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61749398(A;A) |
| Alt | Rs61749398(A;A) |
| Reference | Rs61749398(G;G) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 2M not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 2M not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6128614C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000327.2, RCV000086716.1, |
