PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Klein's 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: 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