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: rs10052957
rs10052957
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs10070190
rs10070190
2 0.925 0.040 5 26866262 intergenic variant G/A snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs10096097
rs10096097
1 1.000 0.040 8 30169582 intron variant G/A snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs1042571
rs1042571
3 0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2009 2009
dbSNP: rs11179027
rs11179027
1 1.000 0.040 12 71983532 intron variant G/C snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2009 2009
dbSNP: rs11783752
rs11783752
2 0.925 0.040 8 20192013 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1298806501
rs1298806501
1 1.000 0.040 14 64227600 missense variant G/A snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs13338499
rs13338499
2 0.925 0.040 16 67486220 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2016 2016
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2008 2008
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs2834070
rs2834070
2 0.925 0.040 21 33015144 intron variant G/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs3749073
rs3749073
1 1.000 0.040 2 230910379 missense variant C/A snv 0.12 0.17 0.010 1.000 1 2011 2011
dbSNP: rs3798577
rs3798577
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs3825885
rs3825885
1 1.000 0.040 15 88059610 intron variant T/C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2016 2016
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs4825476
rs4825476
2 0.925 0.040 X 123307628 intron variant G/A;C snv 0.010 1.000 1 2013 2013