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: rs104894033
rs104894033
3 0.925 0.120 7 128773786 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs1217564642
rs1217564642
2 1.000 0.120 7 128773728 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs141386891
rs141386891
3 0.882 0.120 2 98396449 missense variant C/T snv 4.0E-04 4.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs150153987
rs150153987
1 1.000 0.120 2 98396857 missense variant C/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2008 2008