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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2019
dbSNP: rs1057519959
rs1057519959
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs4240807
rs4240807
4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs4505265
rs4505265
1 1.000 0.120 15 81185114 intron variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs6586163
rs6586163
2 0.925 0.120 10 88992261 non coding transcript exon variant A/C snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs9378805
rs9378805
4 0.851 0.280 6 417727 intergenic variant A/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs2705511
rs2705511
1 1.000 0.120 3 112460632 downstream gene variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2015 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2019
dbSNP: rs1057519832
rs1057519832
1 1.000 0.120 16 81928578 missense variant A/C;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs2003869
rs2003869
2 0.925 0.120 4 108105258 intron variant A/C;G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876659675
rs876659675
8 0.807 0.280 17 7674199 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.010 < 0.001 1 1994 1994
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2011 2011
dbSNP: rs2052702
rs2052702
2 0.925 0.120 15 69697166 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7176508
rs7176508
4 0.851 0.280 15 69726651 intron variant A/G snv 0.67 0.830 1.000 6 2008 2014
dbSNP: rs17483466
rs17483466
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2019
dbSNP: rs35923643
rs35923643
3 0.925 0.120 11 123484683 intron variant A/G snv 0.15 0.710 1.000 3 2016 2018
dbSNP: rs2456449
rs2456449
5 0.827 0.280 8 127180736 intron variant A/G snv 0.30 0.720 1.000 2 2010 2010
dbSNP: rs4406737
rs4406737
FAS
2 0.925 0.120 10 88999967 intron variant A/G snv 0.50 0.800 1.000 2 2013 2016