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: 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: rs1343555503
rs1343555503 		1.000 0.040 18 51058364 missense variant G/A snv 4.0E-06
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs281875321
rs281875321 		0.925 0.360 18 51078307 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs281875321
rs281875321 		0.925 0.360 18 51078307 missense variant T/C snv
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs281875322
rs281875322 		0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2020 2020
dbSNP: rs281875322
rs281875322 		0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs377767360
rs377767360 		0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3819122
rs3819122 		18 51084461 3 prime UTR variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
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: rs755770046
rs755770046 		1.000 0.120 18 51058421 missense variant A/C snv
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2017 2017
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: rs779583608
rs779583608 		1.000 0.120 18 51058424 missense variant A/C snv
CUI: C1968949
Disease: Cakut
Cakut 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs9304407
rs9304407 		1.000 0.040 18 51069023 intron variant C/G snv 0.55
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2019 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