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: 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: rs12618431
rs12618431 		2 222245793 intron variant A/G snv 0.11
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs12618491
rs12618491 		2 222268789 intron variant C/A snv 0.38
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
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: 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: 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: rs1553592766
rs1553592766 		1.000 0.040 2 222294289 frameshift variant C/- del
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: 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: rs16863633
rs16863633 		0.925 0.040 2 222272221 intron variant G/A snv 4.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16863633
rs16863633 		0.925 0.040 2 222272221 intron variant G/A snv 4.1E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: rs768608755
rs768608755 		1.000 0.080 2 222294286 missense variant C/A;T snv 1.2E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
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: rs2118666
rs2118666 		2 222235804 intron variant G/T snv 0.44
CUI: C0582591
Disease: Processing speed
Processing speed 		0.700 1.000 1 2016 2016
dbSNP: rs876657717
rs876657717 		1.000 0.040 2 222232202 missense variant C/T snv 4.0E-06
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 1992 2015
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: 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: 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: 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: 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: 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: 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: 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