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: rs13228878
rs13228878
1 1.000 0.040 7 142765617 intron variant G/A snv 0.51 0.010 < 0.001 1 2019 2019
dbSNP: rs139232307
rs139232307
1 1.000 0.040 7 142773300 missense variant G/A snv 1.4E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs61734659
rs61734659
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs748405415
rs748405415
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs756271986
rs756271986
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 < 0.001 1 2004 2004
dbSNP: rs764176833
rs764176833
2 0.925 0.040 7 142773430 missense variant G/A snv 0.010 < 0.001 1 2004 2004