Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553768038
rs1553768038
ARHGAP31
T 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs372751467
rs372751467
DOCK6
A 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
dbSNP: rs372751467
rs372751467
DOCK6
A 0.700 GeneticVariation CLINVAR DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. 26457590

2015
dbSNP: rs1559999373
rs1559999373
ARHGAP31
C 0.700 CausalMutation CLINVAR

dbSNP: rs387907031
rs387907031
ARHGAP31
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777734
rs587777734
NOTCH1
0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448

2014
dbSNP: rs587777734
rs587777734
NOTCH1
0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448

2014
dbSNP: rs587777736
rs587777736
NOTCH1
0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448

2014
dbSNP: rs587781259
rs587781259
NOTCH1
0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448

2014
dbSNP: rs754138786
rs754138786
DOCK6
0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448

2014
dbSNP: rs770364368
rs770364368
DOCK6
0.010 GeneticVariation BEFREE Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. 25132448

2014