Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557196978
rs1557196978
ATP6AP1
G 0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028

2018
dbSNP: rs267606959
rs267606959
POLG
A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011
dbSNP: rs267606959
rs267606959
POLG
A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010
dbSNP: rs1568523935
rs1568523935
SLC25A42
G 0.700 GeneticVariation CLINVAR

dbSNP: rs367956522
rs367956522
ATP7B
C 0.700 CausalMutation CLINVAR

dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
T 0.700 CausalMutation CLINVAR