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: rs11875687
rs11875687
1 1.000 0.080 18 12843138 intron variant T/C snv 0.17 0.800 1.000 2 2011 2012
dbSNP: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.800 1.000 2 2010 2011
dbSNP: rs13015714
rs13015714
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.810 1.000 2 2008 2009
dbSNP: rs13119723
rs13119723
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2007 2008
dbSNP: rs13132308
rs13132308
6 0.807 0.160 4 122629959 intron variant A/G snv 0.10 0.800 1.000 2 2011 2012
dbSNP: rs13397
rs13397
2 0.925 0.200 X 153982797 synonymous variant G/A snv 0.27 0.15 0.800 1.000 2 2011 2012
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.800 1.000 2 2008 2010
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2008
dbSNP: rs182429
rs182429
1 1.000 0.080 6 159048542 intron variant A/G snv 0.49 0.800 1.000 2 2011 2012
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.800 1.000 2 2011 2016
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.800 1.000 2 2011 2014
dbSNP: rs2187668
rs2187668
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.800 1.000 2 2007 2010
dbSNP: rs2305764
rs2305764
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.020 1.000 2 2007 2010
dbSNP: rs2327832
rs2327832
10 0.790 0.320 6 137651931 intergenic variant A/G snv 0.16 0.810 1.000 2 2009 2010
dbSNP: rs2387397
rs2387397
1 1.000 0.080 10 6348230 intron variant G/A;C snv 0.800 1.000 2 2011 2012
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2012 2018
dbSNP: rs2762051
rs2762051
2 1.000 0.080 13 50261579 intron variant C/T snv 0.15 0.810 1.000 2 2010 2014
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.810 1.000 2 2011 2015
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 1.000 2 2012 2018
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.020 1.000 2 2011 2019
dbSNP: rs4445406
rs4445406
1 1.000 0.080 1 2607961 intron variant T/C snv 0.41 0.800 1.000 2 2011 2012
dbSNP: rs4821124
rs4821124
4 0.851 0.240 22 21625000 downstream gene variant T/C snv 0.19 0.800 1.000 2 2011 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2006 2006
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 2 2015 2016
dbSNP: rs6691768
rs6691768
1 1.000 0.080 1 61326191 intron variant G/A;C snv 0.800 1.000 2 2010 2016