Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs121913355
rs121913355
BRAF
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555471098
rs1555471098
CREBBP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR