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: rs2074380
rs2074380
2 4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381
2 4 112432293 missense variant A/G snv 8.5E-03 5.5E-03 0.010 1.000 1 2013 2013