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: rs1135401744
rs1135401744
KYNU
T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

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

2016
dbSNP: rs1057518848
rs1057518848
TCF4
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908188
rs121908188
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
ZEB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs139073416
rs139073416
PIGV
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553154130
rs1553154130
RERE
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569309484
rs1569309484
RLIM
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569548274
rs1569548274
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs199564797
rs199564797
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs745886248
rs745886248
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs753317536
rs753317536
EVC
A 0.700 GeneticVariation CLINVAR