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: rs723526
rs723526
2 1.000 7 55067126 intron variant A/G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.030 0.667 3 2013 2014
dbSNP: rs28929495
rs28929495
8 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2012 2018
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2012 2018
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2012 2018
dbSNP: rs121913444
rs121913444
17 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.090 1.000 9 2013 2019
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.020 1.000 2 2007 2019
dbSNP: rs7795743
rs7795743
1 7 55182437 non coding transcript exon variant G/A snv 0.56 0.010 1.000 1 2019 2019