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: rs114216685
rs114216685
1 1.000 0.120 8 94391640 missense variant T/C snv 8.8E-04 3.9E-04 0.700 0
dbSNP: rs121908689
rs121908689
2 0.925 0.120 1 46272758 missense variant T/A snv 0.700 0
dbSNP: rs606231364
rs606231364
FAS
2 0.925 0.160 10 89003071 missense variant G/A snv 0.700 0
dbSNP: rs758835365
rs758835365
FAS
1 1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs10008492
rs10008492
2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1003421753
rs1003421753
1 1.000 0.120 3 159989088 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1039312028
rs1039312028
BAX
1 1.000 0.120 19 48955724 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1044129
rs1044129
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1049216
rs1049216
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2007 2007
dbSNP: rs10519097
rs10519097
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052576
rs1052576
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs11038689
rs11038689
3 0.882 0.160 11 45852713 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1127717
rs1127717
3 0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20 0.010 1.000 1 2013 2013
dbSNP: rs11337
rs11337
4 0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2010 2010
dbSNP: rs113686495
rs113686495
4 0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins 0.010 1.000 1 2011 2011
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2015 2015