PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Spina Bifida ×
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: rs16863657
rs16863657 		1.000 0.080 2 222299799 intron variant A/G snv 0.16
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007