PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome ×
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: 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: 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