Gene: ADNP-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777116
rs587777116
DPM1 ; ADNP-AS1
A 0.800 CausalMutation CLINVAR Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis. 26729507

2016
dbSNP: rs587777116
rs587777116
DPM1 ; ADNP-AS1
A 0.800 CausalMutation CLINVAR Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. 23856421

2013
dbSNP: rs587777114
rs587777114
DPM1 ; ADNP-AS1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1568757730
rs1568757730
DPM1 ; ADNP-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs753780084
rs753780084
DPM1 ; ADNP-AS1
A 0.700 CausalMutation CLINVAR