SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912578
rs121912578
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121912578
rs121912578
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma
C 0.800 CausalMutation CLINVAR
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs121912581
rs121912581
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs281875324
rs281875324
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs80338963
rs80338963
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519739
rs1057519739
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs1060500733
rs1060500733
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500734
rs1060500734
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060500734
rs1060500734
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060500739
rs1060500739
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060500742
rs1060500742
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs121912576
rs121912576
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma
T 0.700 CausalMutation CLINVAR
dbSNP: rs121912577
rs121912577
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma
G 0.700 CausalMutation CLINVAR
dbSNP: rs121912577
rs121912577
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs121912579
rs121912579
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0235974
Disease:
Pancreatic carcinoma
T 0.700 CausalMutation CLINVAR
dbSNP: rs1316902116
rs1316902116
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555685156
rs1555685156
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555685186
rs1555685186
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs1555685624
rs1555685624
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555685925
rs1555685925
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555685974
rs1555685974
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
ACATTACTG 0.700 CausalMutation CLINVAR
dbSNP: rs1555685978
rs1555685978
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555686070
rs1555686070
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555686071
rs1555686071
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR