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: rs11567685
rs11567685
1 1.000 0.080 5 35856473 5 prime UTR variant T/C snv 0.26 0.020 < 0.001 2 2014 2017
dbSNP: rs41295061
rs41295061
8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.020 < 0.001 2 2009 2009
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 < 0.001 1 2012 2012
dbSNP: rs1052553
rs1052553
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 < 0.001 1 2013 2013
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs11559013
rs11559013
1 1.000 0.080 3 105575658 3 prime UTR variant G/A;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs11594656
rs11594656
9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 < 0.001 1 2009 2009
dbSNP: rs118204009
rs118204009
2 0.925 0.280 12 57764147 missense variant C/T snv 1.0E-04 4.2E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs11856808
rs11856808
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.010 < 0.001 1 2013 2013
dbSNP: rs1207011218
rs1207011218
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs12115114
rs12115114
2 1.000 0.080 8 63477322 non coding transcript exon variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1233948559
rs1233948559
1 1.000 0.080 17 37161868 synonymous variant T/C snv 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1517440
rs1517440
2 1.000 0.080 2 220589153 intron variant T/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs16870005
rs16870005
1 1.000 0.080 6 32293376 missense variant C/T snv 1.5E-02 1.4E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs17758761
rs17758761
2 1.000 0.080 17 55977164 intron variant A/C snv 4.1E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 < 0.001 1 2010 2010
dbSNP: rs1979277
rs1979277
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2019 2019
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 < 0.001 1 2016 2016
dbSNP: rs305217
rs305217
2 1.000 0.080 1 88754789 intron variant G/A snv 8.6E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs34926152
rs34926152
1 1.000 0.080 3 105545332 missense variant G/A;T snv 4.0E-06; 3.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs35667974
rs35667974
9 0.776 0.280 2 162268127 missense variant T/C snv 1.1E-02 1.2E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2013 2013
dbSNP: rs4798571
rs4798571
2 1.000 0.080 18 7584296 intron variant G/A snv 0.39 0.010 < 0.001 1 2012 2012