PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome Type 2 ×
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: 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