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: rs281875322
rs281875322
0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.820 1.000 4 2011 2020
dbSNP: rs80338963
rs80338963
0.776 0.280 18 51065548 missense variant C/A;G;T snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 14 1997 2016
dbSNP: rs281875320
rs281875320
1.000 0.320 18 51078308 missense variant A/G snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2011 2012
dbSNP: rs281875321
rs281875321
0.925 0.360 18 51078307 missense variant T/C snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2011 2012
dbSNP: rs281875324
rs281875324
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 2 1998 2002
dbSNP: rs121912580
rs121912580
0.807 0.280 18 51067036 missense variant G/A;C;T snv
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2004 2004
dbSNP: rs121912581
rs121912581
0.925 0.200 18 51065521 missense variant 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 0.800 1.000 1 2004 2004
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: rs397518413
rs397518413
0.882 0.400 18 51078294 missense variant C/T snv 8.0E-06
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.710 1.000 3 2014 2019
dbSNP: rs397518413
rs397518413
0.882 0.400 18 51078294 missense variant C/T snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 2004 2016
dbSNP: rs80338965
rs80338965
0.851 0.480 18 51067121 frameshift variant CAGA/- 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 12 1998 2017
dbSNP: rs587783060
rs587783060
1.000 0.120 18 51078354 frameshift variant -/A 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 11 2000 2013
dbSNP: rs80338965
rs80338965
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 1998 2017
dbSNP: rs377767347
rs377767347
0.742 0.520 18 51065549 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 8 1996 2016
dbSNP: rs377767347
rs377767347
0.742 0.520 18 51065549 missense variant G/A;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 8 1998 2016
dbSNP: rs80338963
rs80338963
0.776 0.280 18 51065548 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 8 1996 2016
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: 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: rs281875322
rs281875322
0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 2011 2016
dbSNP: rs281875324
rs281875324
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs377767347
rs377767347
0.742 0.520 18 51065549 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1998 2010
dbSNP: rs1555687386
rs1555687386
1.000 0.120 18 51076734 frameshift variant -/CCCT 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 6 1997 2012
dbSNP: rs377767360
rs377767360
0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1999 2015
dbSNP: rs80338963
rs80338963
0.776 0.280 18 51065548 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1998 2016