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: rs104886033
rs104886033
DHCR7
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397517077
rs397517077
CBL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR

dbSNP: rs753317536
rs753317536
EVC
A 0.700 GeneticVariation CLINVAR

dbSNP: rs755604487
rs755604487
PHIP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs771237928
rs771237928
NOTCH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
A 0.700 GeneticVariation CLINVAR