VWF von Willebrand factor
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 410 |
| Likely pathogenic | 0 | 360 |
| Benign | 58 | 260 |
| Likely benign | 0 | 292 |
| Conflicting classifications of pathogenicity | 0 | 150 |
| Conflicting classifications of pathogenicity; risk factor | 0 | 2 |
| not provided | 0 | 334 |
| Uncertain significance | 0 | 1,190 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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500 |
![]() |
1,506 |
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344 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | F8VWF |
| SYNONYM | VWD |
| MIM | 613160 OMIM |
| HGNC | HGNC:12726 HGNC |
| Ensembl | ENSG00000110799 Ensembl |
| AllianceGenome | HGNC:12726 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000261405.10 | hg38 | chr12 | 5,948,877 | 6,124,670 | 175,794 |
| ENST00000261405.10 | hg19 | chr12 | 6,058,043 | 6,233,836 | 175,794 |
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