EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Tooth Agenesis, Selective, X-Linked, 1 ×
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: rs879255551
rs879255551 		0.925 0.120 X 70033469 missense variant C/T snv
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 7 2006 2016
dbSNP: rs879255611
rs879255611 		1.000 0.080 X 70030503 missense variant C/A snv
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 7 2006 2016
dbSNP: rs132630319
rs132630319 		1.000 0.080 X 69616501 missense variant C/G snv
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 0
dbSNP: rs132630321
rs132630321 		0.851 0.120 X 70035446 missense variant C/T snv 5.5E-06 9.6E-06
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 0
dbSNP: rs142948132
rs142948132 		1.000 0.080 X 70035434 missense variant G/A;C;T snv 9.2E-04; 5.5E-06
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 7 2006 2016
dbSNP: rs132630308
rs132630308 		0.925 0.120 X 69616489 missense variant T/C snv
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs132630312
rs132630312 		0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs132630320
rs132630320 		0.925 0.120 X 70035505 missense variant C/G snv
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs483352804
rs483352804 		0.925 0.080 X 70035389 missense variant G/A;T snv
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0