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: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 10 2009 2019
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 7 2011 2019
dbSNP: rs16998073
rs16998073
10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.700 1.000 6 2009 2019
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 6 2011 2018
dbSNP: rs633185
rs633185
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 6 2011 2018
dbSNP: rs11953630
rs11953630
6 5 158418394 intergenic variant C/A;T snv 0.700 1.000 5 2011 2018
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 5 2009 2018
dbSNP: rs12579720
rs12579720
2 12 20020830 intron variant C/A;G;T snv 0.700 1.000 4 2015 2018
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.700 1.000 4 2017 2018
dbSNP: rs419076
rs419076
6 3 169383098 intron variant T/A;C snv 0.700 1.000 4 2011 2018
dbSNP: rs167479
rs167479
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 3 2016 2017
dbSNP: rs2586886
rs2586886
4 1.000 0.080 2 26709163 intron variant C/G;T snv 0.700 1.000 3 2016 2019
dbSNP: rs2932538
rs2932538
4 1 112673921 intron variant A/C;G snv 0.700 1.000 3 2011 2017
dbSNP: rs7599598
rs7599598
2 2 96686103 missense variant A/G;T snv 0.41 0.700 1.000 3 2017 2018
dbSNP: rs9815354
rs9815354
4 0.925 0.160 3 41871159 intron variant G/A;T snv 0.700 1.000 3 2009 2017
dbSNP: rs10184428
rs10184428
5 2 164155317 intron variant C/A;G snv 0.700 1.000 2 2018 2018
dbSNP: rs1063281
rs1063281
2 2 217804009 3 prime UTR variant C/A;T snv 0.700 1.000 2 2017 2017
dbSNP: rs11030119
rs11030119
3 11 27706555 intron variant G/A;T snv 0.700 1.000 2 2017 2017
dbSNP: rs11099098
rs11099098
8 0.925 0.120 4 80248758 intergenic variant G/C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1126464
rs1126464
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 2 2016 2016
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.700 1.000 2 2016 2017
dbSNP: rs11977526
rs11977526
3 7 45968511 intron variant G/A;T snv 0.700 1.000 2 2017 2017
dbSNP: rs12405515
rs12405515
2 1 172388301 intron variant G/A;C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs1717027
rs1717027
3 1.000 0.160 3 41946428 intron variant T/A;C snv 0.700 1.000 2 2013 2019
dbSNP: rs1859168
rs1859168
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.700 1.000 2 2017 2018