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: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR