Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.700 GeneticVariation CLINVAR