Gene: SMAD4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500733
rs1060500733
SMAD4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500734
rs1060500734
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500739
rs1060500739
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500740
rs1060500740
SMAD4
C 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1060500740
rs1060500740
SMAD4
C 0.700 GeneticVariation CLINVAR Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. 21572342

2012
dbSNP: rs1060500742
rs1060500742
SMAD4
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500744
rs1060500744
SMAD4
T 0.700 CausalMutation CLINVAR Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612

2008
dbSNP: rs121912577
rs121912577
SMAD4
G 0.700 CausalMutation CLINVAR

dbSNP: rs121912581
rs121912581
SMAD4
0.700 GeneticVariation UNIPROT Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs121912581
rs121912581
SMAD4
0.700 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
dbSNP: rs1316902116
rs1316902116
SMAD4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
dbSNP: rs1555685624
rs1555685624
SMAD4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
dbSNP: rs1555686503
rs1555686503
SMAD4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555686506
rs1555686506
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555686600
rs1555686600
SMAD4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555686608
rs1555686608
SMAD4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555686616
rs1555686616
SMAD4
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555686624
rs1555686624
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555687377
rs1555687377
SMAD4
A 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005