PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome Type 1 ×
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: 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: 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: 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: 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: 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: 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: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1553592703
rs1553592703 		1.000 0.040 2 222294222 frameshift variant -/AG ins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1553592713
rs1553592713 		1.000 0.040 2 222294228 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: rs1553592757
rs1553592757 		1.000 0.040 2 222294269 frameshift variant ATT/TA delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs1559316535
rs1559316535 		1.000 0.040 2 222294194 frameshift variant GT/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1559316542
rs1559316542 		1.000 0.040 2 222294197 frameshift variant G/- del
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1559318562
rs1559318562 		1.000 0.040 2 222295610 frameshift variant CTTTT/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1559320252
rs1559320252 		1.000 0.040 2 222297018 frameshift variant AGTCTCCTGGTACC/- delins
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: 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: 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