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: rs1302482009
rs1302482009
1 1.000 8 143810730 missense variant G/A snv 2.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs782428100
rs782428100
1 1.000 8 143792044 missense variant C/T snv 5.2E-05 9.1E-05 0.700 1.000 1 2012 2012