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: rs1553568831
rs1553568831 		1.000 0.040 2 222201988 frameshift variant -/TGTA delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: 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: rs147111779
rs147111779 		1.000 0.040 2 222202134 stop gained G/A;C snv 2.8E-05 2.1E-05
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs13017777
rs13017777 		2 222204906 intron variant T/C snv 0.37
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs77177529
rs77177529 		1.000 0.080 2 222205957 intron variant C/T snv 7.5E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
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: rs1553572740
rs1553572740 		1.000 0.040 2 222220292 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: 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: rs1553572946
rs1553572946 		1.000 0.040 2 222221259 frameshift variant C/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs1553572967
rs1553572967 		0.925 0.040 2 222221300 frameshift variant -/C delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1020175890
rs1020175890 		1.000 0.040 2 222221362 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 1 2014 2014
dbSNP: rs774528745
rs774528745 		1.000 0.040 2 222221368 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2014 2014
dbSNP: rs1380858784
rs1380858784 		1.000 0.040 2 222221369 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: rs1228590199
rs1228590199 		0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06
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: 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: rs1553575157
rs1553575157 		1.000 0.040 2 222232079 missense variant T/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1553575159
rs1553575159 		1.000 0.040 2 222232080 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 1.000 1 2018 2018
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: rs1553575179
rs1553575179 		1.000 0.040 2 222232131 frameshift variant AATGTCAGGGTAA/- 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: rs1553575191
rs1553575191 		1.000 0.040 2 222232178 missense variant A/G snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0