SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Disease: Hypospadias, perineal ×
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: 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