SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519739
rs1057519739
1.000 0.080 18 51065518 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs1057519739
rs1057519739
1.000 0.080 18 51065518 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1057519740
rs1057519740
18 51065532 missense variant C/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs1057519741
rs1057519741
18 51078417 missense variant G/T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060500733
rs1060500733
1.000 0.120 18 51065563 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1060500733
rs1060500733
1.000 0.120 18 51065563 stop gained C/T snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060500734
rs1060500734
1.000 0.120 18 51067077 frameshift variant A/- del
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060500734
rs1060500734
1.000 0.120 18 51067077 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060500739
rs1060500739
1.000 0.120 18 51048696 frameshift variant AAGGA/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060500740
rs1060500740
1.000 0.120 18 51076778 splice donor variant T/C snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2006 2012
dbSNP: rs1060500742
rs1060500742
1.000 0.120 18 51058181 frameshift variant GGCCTCAG/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060500744
rs1060500744
1.000 0.120 18 51078334 frameshift variant G/- delins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs11875522
rs11875522
18 51065392 intron variant G/A snv 1.1E-02 4.8E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs11875522
rs11875522
18 51065392 intron variant G/A snv 1.1E-02 4.8E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs121912576
rs121912576
1.000 0.120 18 51065539 stop gained G/T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs121912577
rs121912577
0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121912577
rs121912577
0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs121912578
rs121912578
1.000 0.120 18 51078285 missense variant G/C snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.800 0
dbSNP: rs121912579
rs121912579
1.000 0.120 18 51078351 stop gained A/T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0