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: rs12968012
rs12968012
1.000 0.040 18 51041256 intron variant C/G snv 0.32
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12455792
rs12455792
18 51046270 intron variant C/A;T snv
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs786203560
rs786203560
1.000 0.120 18 51047194 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786203560
rs786203560
1.000 0.120 18 51047194 frameshift variant A/-;AA 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: rs761937143
rs761937143
1.000 0.040 18 51047229 synonymous variant A/C snv 8.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
Neoplasms 0.010 1.000 1 2019 2019
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: rs1555685156
rs1555685156
18 51048711 frameshift variant AT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs876660079
rs876660079
18 51048733 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs377767323
rs377767323
1.000 0.160 18 51048738 stop gained G/A snv
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs377767324
rs377767324
1.000 0.120 18 51048809 frameshift variant -/AT ins
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs377767325
rs377767325
1.000 0.120 18 51048810 frameshift variant -/TGTCTGT 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: rs1555685186
rs1555685186
1.000 0.080 18 51048824 missense variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs377767326
rs377767326
1.000 0.120 18 51048839 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 1.000 2 2006 2007
dbSNP: rs377767386
rs377767386
1.000 0.120 18 51048861 splice donor variant G/A 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: rs377767328
rs377767328
1.000 0.120 18 51049296 frameshift variant TC/- 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 2006 2006
dbSNP: rs377767328
rs377767328
1.000 0.120 18 51049296 frameshift variant TC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs377767329
rs377767329
1.000 0.120 18 51049307 stop gained T/A;G 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: rs1555685248
rs1555685248
1.000 0.120 18 51049326 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 3 2005 2012
dbSNP: rs7229678
rs7229678
1.000 0.040 18 51051412 3 prime UTR variant G/A;C snv 0.37
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1555685624
rs1555685624
1.000 0.120 18 51054787 stop gained C/G 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: rs377767330
rs377767330
1.000 0.120 18 51054842 inframe deletion GTCCACTGAAGG/- 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: rs377767331
rs377767331
1.000 0.120 18 51054859 stop gained C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs377767331
rs377767331
1.000 0.120 18 51054859 stop gained C/G 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: rs377767332
rs377767332
1.000 0.120 18 51054864 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: rs1316902116
rs1316902116
1.000 0.120 18 51054911 stop gained C/G;T snv 7.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0