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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.907 43 2003 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.875 16 2001 2014
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 0.857 14 2003 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 1.000 8 2008 2016
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.060 0.833 6 2012 2019
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2005 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2013
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.040 1.000 4 2011 2015
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.040 1.000 4 2005 2019
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.040 1.000 4 2008 2016
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.040 1.000 4 2010 2015
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2005 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 0.750 4 2011 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2007 2017
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2012 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2014 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.030 0.667 3 2012 2016
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.030 1.000 3 2014 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2011 2014
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.030 1.000 3 2003 2005
dbSNP: rs2066827
rs2066827
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.030 1.000 3 2014 2015
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 0.667 3 2004 2011
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.030 1.000 3 2016 2018
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.030 1.000 3 2013 2016
dbSNP: rs895819
rs895819
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.030 0.667 3 2012 2019