Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
GTCAT | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. | 28462984 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. | 28462984 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | XYLT1 mutations in Desbuquois dysplasia type 2. | 24581741 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." | 23982343 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." | 23982343 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | XYLT1 mutations in Desbuquois dysplasia type 2. | 24581741 | 2014 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR |