PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
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: rs2236007
rs2236007 		0.925 0.080 14 36663564 intron variant G/A;C snv 0.18; 8.6E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2013 2017
dbSNP: rs10131337
rs10131337 		14 36675311 intron variant C/T snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11629412
rs11629412 		1.000 0.080 14 36669089 intron variant G/A;C snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555316697
rs1555316697 		1.000 0.080 14 36662951 missense variant C/T snv
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		0.700 1.000 1 2017 2017
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: 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: rs2236007
rs2236007 		0.925 0.080 14 36663564 intron variant G/A;C snv 0.18; 8.6E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7149262
rs7149262 		1.000 0.080 14 36667340 intron variant C/A snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue 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: rs1131692057
rs1131692057 		0.925 0.080 14 36662092 start lost G/A snv
CUI: C4082304
Disease: Oligodontia
Oligodontia 		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
dbSNP: rs4904210
rs4904210 		0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 0.500 2 2010 2013
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: rs4904210
rs4904210 		0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.020 0.500 2 2011 2014
dbSNP: rs104894469
rs104894469 		0.925 0.080 14 36663043 missense variant G/A;T snv 4.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2003 2003
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: rs2073244
rs2073244 		14 36660669 intron variant A/G snv 0.33
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs28933970
rs28933970 		0.925 0.080 14 36662954 missense variant T/C snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2017 2017
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