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: rs11038357
rs11038357
1 1.000 0.040 11 45216307 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs17477923
rs17477923
1 1.000 0.040 15 49418988 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs66760320
rs66760320
1 1.000 0.040 6 43938518 regulatory region variant C/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs8077245
rs8077245
1 1.000 0.040 17 72380036 intron variant G/T snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs118039499
rs118039499
2 1.000 0.040 8 132759389 5 prime UTR variant A/C snv 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs121908875
rs121908875
2 0.925 0.040 14 81144073 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs121908879
rs121908879
2 0.925 0.080 14 81096641 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs12722039
rs12722039
2 0.925 0.120 6 32637507 missense variant G/A snv 5.7E-02 8.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs1482760341
rs1482760341
2 0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs2983514
rs2983514
2 0.925 0.040 6 165636631 intron variant A/G snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs925488
rs925488
2 1.000 0.040 9 97784109 intron variant G/A snv 0.71 0.700 1.000 1 2018 2018
dbSNP: rs12138950
rs12138950
3 0.925 0.040 1 19512621 intron variant A/C snv 5.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs1311839715
rs1311839715
3 0.882 0.200 17 21703291 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs571893270
rs571893270
3 0.882 0.040 14 81143641 missense variant G/A snv 8.0E-05 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs9355610
rs9355610
3 0.882 0.200 6 166969587 downstream gene variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2046045
rs2046045
4 0.925 0.080 5 77239986 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs28937584
rs28937584
4 0.925 0.080 14 81143955 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3827440
rs3827440
6 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2018 2018
dbSNP: rs121908873
rs121908873
7 0.790 0.160 14 81139828 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121908874
rs121908874
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 1994 1994
dbSNP: rs4416670
rs4416670
7 0.827 0.240 6 43982716 intergenic variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs17879469
rs17879469
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs3789604
rs3789604
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 < 0.001 1 2016 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2012 2012