Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

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

2016
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1561964103
rs1561964103
TFAP2B
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566823361
rs1566823361
FGF14
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1567010427
rs1567010427
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs587784105
rs587784105
NSD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs875989803
rs875989803
DDX3X
T 0.700 CausalMutation CLINVAR

dbSNP: rs886041936
rs886041936
HDAC8
A 0.700 CausalMutation CLINVAR