Gene: PAX4 ×
Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs114202595
rs114202595
PAX4
1 0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06 0.850 1.000 2 2001 2013
dbSNP: rs2233580
rs2233580
PAX4
1 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.740 0.833 2 2013 2019