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: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs1291139
rs1291139
1 1.000 0.040 20 36887791 intron variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2057262
rs2057262
1 1.000 0.040 20 33099326 intron variant C/A snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs28937873
rs28937873
7 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs33972313
rs33972313
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
dbSNP: rs9506430
rs9506430
1 1.000 0.040 13 20143604 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019