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: rs1884302
rs1884302
4 0.851 0.120 20 7125642 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs42336
rs42336
1 1.000 0.080 7 116801535 downstream gene variant A/G snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs12188164
rs12188164
1 1.000 0.080 5 428121 intron variant C/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs34210653
rs34210653
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs4504543
rs4504543
1 1.000 0.080 7 36643290 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs3810831
rs3810831
1 1.000 0.080 2 86791424 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs75527207
rs75527207
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs213950
rs213950
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
dbSNP: rs886043448
rs886043448
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs140598
rs140598
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs981703846
rs981703846
3 0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2000 2011
dbSNP: rs121909627
rs121909627
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.020 1.000 2 1997 2000
dbSNP: rs756016701
rs756016701
3 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.020 1.000 2 2000 2002
dbSNP: rs768918396
rs768918396
1 1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.050 1.000 5 2004 2017
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.040 1.000 4 1999 2014
dbSNP: rs121918504
rs121918504
9 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.030 1.000 3 2000 2004
dbSNP: rs1057520044
rs1057520044
1 1.000 0.080 10 121498597 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121918501
rs121918501
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121918506
rs121918506
3 0.882 0.080 10 121496701 missense variant T/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs1224606327
rs1224606327
1 1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012