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: rs104893653
rs104893653 		1.000 0.040 2 222297160 missense variant T/G snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 4 1993 2003
dbSNP: rs104893651
rs104893651 		0.925 0.040 2 222297048 missense variant G/A snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 3 1993 2003
dbSNP: rs104893654
rs104893654 		1.000 0.040 2 222297031 missense variant A/G snv
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 3 1993 2003
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
dbSNP: rs1559318494
rs1559318494 		1.000 0.040 2 222295581 frameshift variant TTTCCCAGCTGAA/- delins
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0