EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Hypodontia ×
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: rs876657641
rs876657641 		1.000 0.080 X 70033470 missense variant G/A;C snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 2 2009 2014
dbSNP: rs397516654
rs397516654 		0.925 0.120 X 70035527 missense variant T/C snv 1.1E-05 3.0E-05
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1131692034
rs1131692034 		0.790 0.160 X 69616488 stop gained C/A snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs132630321
rs132630321 		0.851 0.120 X 70035446 missense variant C/T snv 5.5E-06 9.6E-06
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2009 2009