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: rs267607591
rs267607591
4 0.882 0.200 1 156135274 missense variant G/A snv 0.020 1.000 2 2014 2016
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 0.500 2 2009 2012
dbSNP: rs104895461
rs104895461
4 0.882 0.120 16 50710912 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs104895477
rs104895477
3 0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs1316724604
rs1316724604
1 3 93884748 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1369837875
rs1369837875
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1469042326
rs1469042326
2 1.000 0.120 8 103885482 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801689
rs1801689
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs1801690
rs1801690
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs1801692
rs1801692
1 17 66226046 missense variant C/T snv 3.9E-02 3.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs2288493
rs2288493
2 1.000 0.040 14 81145262 3 prime UTR variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 < 0.001 1 2009 2009
dbSNP: rs3765187
rs3765187
3 0.925 0.160 7 80656687 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4581
rs4581
5 0.851 0.160 17 66214639 missense variant C/A;G snv 0.38; 4.0E-06; 4.0E-06 0.36 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs57077886
rs57077886
9 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2017 2017
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2011 2011
dbSNP: rs777417437
rs777417437
1 12 10882293 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs79154414
rs79154414
2 1.000 0.040 2 67897074 intergenic variant C/T snv 6.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2017 2017