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: rs1559320299
rs1559320299 		0.925 0.160 2 222297043 missense variant T/A snv
CUI: C0423113
Disease: Telecanthus
Telecanthus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: rs369886550
rs369886550 		1.000 0.040 2 222202087 stop gained G/A;C;T snv 2.0E-05; 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: 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: rs876661317
rs876661317 		1.000 0.040 2 222295564 stop gained T/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs886041319
rs886041319 		1.000 0.040 2 222232086 stop gained 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: 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: rs1553572967
rs1553572967 		0.925 0.040 2 222221300 frameshift variant -/C delins
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1995 1997
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: rs2234675
rs2234675 		1.000 0.040 2 222221236 missense variant G/A;T snv 4.0E-06; 2.7E-02
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 1998 1998
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: 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: rs104893654
rs104893654 		1.000 0.040 2 222297031 missense variant A/G 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: rs1228590199
rs1228590199 		0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1993 2003
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: rs1156242341
rs1156242341 		1.000 0.040 2 222202072 missense variant T/C snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1189463428
rs1189463428 		1.000 0.040 2 222297003 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1992 2012
dbSNP: rs1978859
rs1978859 		1.000 0.080 2 222217612 intron variant C/T snv 0.46
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2855268
rs2855268 		0.882 0.040 2 222202200 intron variant C/G;T snv 0.11; 2.6E-05
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2855268
rs2855268 		0.882 0.040 2 222202200 intron variant C/G;T snv 0.11; 2.6E-05
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2855268
rs2855268 		0.882 0.040 2 222202200 intron variant C/G;T snv 0.11; 2.6E-05
CUI: C0027962
Disease: Melanocytic nevus
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: 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: 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