VWA1 Chromosome 1
Von Willebrand factor A domain containing 1
Upload your DNA to see your personal genotypes for variants in VWA1.
What This Gene Does
VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000179403
Associated Conditions (5)
Neuronopathy
distal hereditary motor
autosomal recessive 7
Neuromuscular disease
VWA1-related disorder
Key Variants
RS1023125265
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS140102921
Conflicting classifications of pathogenicity
Health Risk
RS1557770517
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS542170050
Conflicting classifications of pathogenicity
Health Risk
RS572587594
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS769761723
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS1638559065
Likely pathogenic
Neuromuscular disease, Neuromuscular disease
Health Risk
RS1638612983
Likely pathogenic
Health Risk
RS2523721234
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS2523723957
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS749383814
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 7
Health Risk
RS762573767
Likely pathogenic
VWA1-related disorder, Neuromuscular disease, Neuronopathy
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1023125265 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS140102921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1557770517 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS542170050 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS572587594 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS769761723 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS1638559065 | Health Risk | Likely pathogenic | Neuromuscular disease, Neuromuscular disease |
| RS1638612983 | Health Risk | Likely pathogenic | — |
| RS2523721234 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS2523723957 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS749383814 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS762573767 | Health Risk | Likely pathogenic | VWA1-related disorder, Neuromuscular disease, Neuronopathy |
| RS2523714470 | Health Risk | Pathogenic | — |
| RS750227698 | Health Risk | Pathogenic | — |
| RS767263669 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS746212067 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 7 |
| RS760281341 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 7 |