SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
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: rs121918359
rs121918359 		0.925 0.040 13 36872722 stop gained G/A;T snv 2.4E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs371433324
rs371433324 		0.882 0.120 13 36865689 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs371433324
rs371433324 		0.882 0.120 13 36865689 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs371433324
rs371433324 		0.882 0.120 13 36865689 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs397514716
rs397514716 		0.925 0.040 13 36865660 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs869320699
rs869320699 		13 36879422 missense variant C/T snv
CUI: C0032584
Disease: polyps
polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015