PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
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: rs1555316704
rs1555316704 		1.000 0.080 14 36663072 stop gained C/A snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4904210
rs4904210 		0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 0.500 2 2011 2014
dbSNP: rs12881240
rs12881240 		1.000 0.080 14 36666547 missense variant C/G;T snv 4.9E-06; 0.18
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28933971
rs28933971 		0.882 0.080 14 36662975 missense variant G/A;C snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs374534090
rs374534090 		0.925 0.080 14 36663506 missense variant G/A;C;T snv 4.2E-06; 4.2E-06
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7143727
rs7143727 		0.925 0.080 14 36666400 non coding transcript exon variant G/C snv 4.7E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs754287422
rs754287422 		0.925 0.080 14 36663308 missense variant A/G snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs776377834
rs776377834 		1.000 0.080 14 36676436 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs779059411
rs779059411 		0.925 0.080 14 36666492 missense variant A/C;G snv 8.4E-06
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2008 2008