SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
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: rs72661148
rs72661148 		18 47845324 synonymous variant A/G snv 2.2E-02 2.4E-02
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1792658
rs1792658 		0.925 0.120 18 47856234 intron variant A/C;T snv
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs781521972
rs781521972 		1.000 0.080 18 47896706 synonymous variant T/A snv 4.0E-06
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11082639
rs11082639 		1.000 0.040 18 47900264 intron variant C/T snv 0.54
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs797044882
rs797044882 		18 47848537 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 1999 2015
dbSNP: rs13381619
rs13381619 		1.000 0.040 18 47890513 intron variant C/G snv 0.22
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1792658
rs1792658 		0.925 0.120 18 47856234 intron variant A/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1792671
rs1792671 		1.000 0.040 18 47835823 3 prime UTR variant T/C snv 0.55
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9955626
rs9955626 		1.000 0.040 18 47888550 intron variant G/A snv 0.50
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2019 2019