PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
Disease: Tooth Agenesis, Selective, 3 ×
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: rs104894469
rs104894469 		0.925 0.080 14 36663043 missense variant G/A;T snv 4.0E-06
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 1 2003 2003
dbSNP: rs1555316697
rs1555316697 		1.000 0.080 14 36662951 missense variant C/T snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs104894467
rs104894467 		1.000 0.080 14 36663232 stop gained A/C;T snv 8.0E-06
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1131692057
rs1131692057 		0.925 0.080 14 36662092 start lost G/A snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs121917720
rs121917720 		1.000 0.080 14 36663031 missense variant C/T snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs28933970
rs28933970 		0.925 0.080 14 36662954 missense variant T/C snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs28933971
rs28933971 		0.882 0.080 14 36662975 missense variant G/A;C snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs28933972
rs28933972 		1.000 0.080 14 36662968 missense variant C/T snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs587776350
rs587776350 		1.000 0.080 14 36663228 missense variant C/G snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0