Source: ALL
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: rs121917718
rs121917718
PAX4
3 0.925 0.080 7 127613804 missense variant G/A snv 5.2E-05 3.5E-05 0.700 0
dbSNP: rs371715169
rs371715169
PAX4
1 1.000 0.080 7 127611677 splice acceptor variant C/T snv 4.1E-06 7.1E-06 0.700 0