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: rs1047624774
rs1047624774
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs104893714
rs104893714
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1057517742
rs1057517742
1 1.000 0.120 7 150958430 stop gained G/C;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1057520558
rs1057520558
1 1.000 0.120 7 150947453 stop gained G/C snv 0.700 0
dbSNP: rs1057520598
rs1057520598
1 1.000 0.120 7 150959738 splice acceptor variant T/C snv 0.700 1.000 2 2000 2009
dbSNP: rs1060500621
rs1060500621
1 1.000 0.120 11 2572846 missense variant GA/TT mnv 0.700 1.000 10 1999 2016
dbSNP: rs1060500623
rs1060500623
1 1.000 0.120 11 2445295 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500626
rs1060500626
1 1.000 0.120 11 2572069 frameshift variant AGGCTCCTGG/- delins 0.700 0
dbSNP: rs1060500628
rs1060500628
1 1.000 0.120 11 2572062 stop gained G/T snv 0.700 0
dbSNP: rs1060500629
rs1060500629
1 1.000 0.120 11 2587616 stop gained G/A snv 0.700 0
dbSNP: rs1060500661
rs1060500661
1 1.000 0.120 7 150951698 frameshift variant G/- delins 0.700 0
dbSNP: rs1060500662
rs1060500662
1 1.000 0.120 7 150950200 frameshift variant -/TC delins 0.700 0
dbSNP: rs1060500670
rs1060500670
1 1.000 0.120 7 150959642 frameshift variant C/- del 0.700 1.000 1 2009 2009
dbSNP: rs1060502318
rs1060502318
1 1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06 0.700 0
dbSNP: rs1064793434
rs1064793434
1 1.000 0.120 7 150948978 frameshift variant C/- delins 0.700 0
dbSNP: rs1064794793
rs1064794793
1 1.000 0.120 7 150950983 stop gained G/A snv 0.700 0
dbSNP: rs1064795287
rs1064795287
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs1064795333
rs1064795333
1 1.000 0.120 11 2528005 frameshift variant CT/- delins 0.710 1.000 1 2014 2014
dbSNP: rs10800397
rs10800397
1 1.000 0.120 1 162267300 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1085307479
rs1085307479
1 1.000 0.120 14 90404691 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1085307620
rs1085307620
1 1.000 0.120 7 150958306 frameshift variant TGCCA/G delins 0.700 0
dbSNP: rs1131691762
rs1131691762
1 1.000 0.120 21 34449622 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 1997 2014
dbSNP: rs1137617
rs1137617
1 1.000 0.120 7 150951110 stop gained A/C;G;T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs11551462
rs11551462
2 0.925 0.120 2 47160802 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1167115018
rs1167115018
5 0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017