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: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.750 1.000 7 2002 2009
dbSNP: rs148954387
rs148954387
3 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 0
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2002 2006
dbSNP: rs12338
rs12338
10 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 0.020 1.000 2 2006 2008
dbSNP: rs747940576
rs747940576
4 0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05 0.020 1.000 2 2006 2008
dbSNP: rs776941569
rs776941569
6 0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04 0.020 1.000 2 2006 2008
dbSNP: rs777418530
rs777418530
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2009
dbSNP: rs557826746
rs557826746
1 1.000 0.080 10 112950901 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs61734659
rs61734659
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs748405415
rs748405415
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs768051473
rs768051473
1 1.000 0.080 7 142750587 missense variant G/A;C snv 2.4E-05; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2014 2014