PAX9, paired box 9, 5083

N. diseases: 53; N. variants: 23
Disease: Agenesis ×
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: rs4904210
rs4904210 		0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 0.500 2 2010 2013
dbSNP: rs104894469
rs104894469 		0.925 0.080 14 36663043 missense variant G/A;T snv 4.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2003 2003
dbSNP: rs28933970
rs28933970 		0.925 0.080 14 36662954 missense variant T/C snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2017 2017