PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
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: rs16863657
rs16863657 		1.000 0.080 2 222299799 intron variant A/G snv 0.16
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs866429341
rs866429341 		1.000 0.080 2 222298546 missense variant C/A;T snv 4.4E-06
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1997 1997
dbSNP: rs6754024
rs6754024 		0.882 0.040 2 222297305 intron variant T/G snv 0.85
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs6754024
rs6754024 		0.882 0.040 2 222297305 intron variant T/G snv 0.85
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs6754024
rs6754024 		0.882 0.040 2 222297305 intron variant T/G snv 0.85
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1553594069
rs1553594069 		1.000 0.040 2 222297215 splice acceptor variant T/C snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs773327091
rs773327091 		1.000 0.040 2 222297175 missense variant C/A;G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1553594009
rs1553594009 		1.000 0.040 2 222297162 frameshift variant -/T delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs104893653
rs104893653 		1.000 0.040 2 222297160 missense variant T/G snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 4 1993 2003
dbSNP: rs104893652
rs104893652 		1.000 0.200 2 222297158 missense variant G/C snv
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1996 1996
dbSNP: rs1419548558
rs1419548558 		1.000 0.040 2 222297157 missense variant C/A;G;T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 2 2014 2018
dbSNP: rs104893650
rs104893650 		1.000 0.040 2 222297150 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs1553593965
rs1553593965 		1.000 0.040 2 222297139 inframe deletion GTTGGGCAGCGG/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs267606931
rs267606931 		1.000 0.040 2 222297132 missense variant C/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs1559320436
rs1559320436 		1.000 0.040 2 222297097 inframe deletion GGATGCCGTGGTGGGCCA/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1356246522
rs1356246522 		1.000 0.040 2 222297089 stop gained G/A;T snv 4.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1553593928
rs1553593928 		1.000 0.040 2 222297081 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs1553593917
rs1553593917 		1.000 0.040 2 222297067 missense variant C/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs387906947
rs387906947 		1.000 0.040 2 222297061 missense variant G/C snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs587776586
rs587776586 		1.000 0.040 2 222297057 missense variant C/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 20 1992 2014
dbSNP: rs777297575
rs777297575 		1.000 0.040 2 222297053 stop gained G/A;C;T snv 4.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs104893651
rs104893651 		0.925 0.040 2 222297048 missense variant G/A snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 3 1993 2003
dbSNP: rs104893651
rs104893651 		0.925 0.040 2 222297048 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1559320299
rs1559320299 		0.925 0.160 2 222297043 missense variant T/A snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1559320299
rs1559320299 		0.925 0.160 2 222297043 missense variant T/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0