Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs140119177
rs140119177
FAM120AOS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554504663
rs1554504663
RHOBTB2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555038029
rs1555038029
KMT2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1557781252
rs1557781252
GATAD2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
A 0.700 CausalMutation CLINVAR

dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567941252
rs1567941252
PCGF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515415
rs397515415
HDAC8
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs751093906
rs751093906
SLC20A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312713
rs869312713
ANKRD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518914
rs1057518914
RPS6KA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562150844
rs1562150844
PHIP
C 0.700 CausalMutation CLINVAR

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