Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777734
rs587777734
NOTCH1
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
dbSNP: rs587777736
rs587777736
NOTCH1
G 0.800 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
dbSNP: rs587777736
rs587777736
NOTCH1
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
dbSNP: rs587781259
rs587781259
NOTCH1
T 0.800 CausalMutation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
dbSNP: rs587781259
rs587781259
NOTCH1
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
dbSNP: rs587777734
rs587777734
NOTCH1
T 0.800 CausalMutation CLINVAR

dbSNP: rs587777736
rs587777736
NOTCH1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057523819
rs1057523819
NOTCH1
T 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1448345366
rs1448345366
NOTCH1
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1554727954
rs1554727954
NOTCH1
T 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1554728424
rs1554728424
NOTCH1
T 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1554729113
rs1554729113
NOTCH1
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1554729443
rs1554729443
NOTCH1
G 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1554730184
rs1554730184
NOTCH1 ; MIR4673
GG 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs1554730670
rs1554730670
NOTCH1
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs587778569
rs587778569
NOTCH1
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs771590616
rs771590616
NOTCH1
T 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs746342893
rs746342893
NOTCH1
A 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs754529382
rs754529382
NOTCH1
C 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs864622056
rs864622056
NOTCH1
T 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs864622057
rs864622057
NOTCH1
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs864622058
rs864622058
NOTCH1
T 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs864622059
rs864622059
NOTCH1
GT 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs864622060
rs864622060
NOTCH1
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs864622061
rs864622061
NOTCH1
CA 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015