Gene: SMAD4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875322
rs281875322
SMAD4
G 0.820 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539

2011
dbSNP: rs281875320
rs281875320
SMAD4
G 0.800 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539

2011
dbSNP: rs281875321
rs281875321
SMAD4
C 0.800 CausalMutation CLINVAR Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539

2011
dbSNP: rs397518413
rs397518413
SMAD4
T 0.710 CausalMutation CLINVAR Novel SMAD4 mutation causing Myhre syndrome. 24715504

2014
dbSNP: rs397518413
rs397518413
SMAD4
T 0.710 CausalMutation CLINVAR Myhre and LAPS syndromes: clinical and molecular review of 32 patients. 24424121

2014
dbSNP: rs1555686624
rs1555686624
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338965
rs80338965
SMAD4
T 0.700 CausalMutation CLINVAR