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: rs10120688
rs10120688
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs10451941
rs10451941
3 0.882 0.160 3 193637313 intron variant T/A;C snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs10483727
rs10483727
4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs1052990
rs1052990
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10759930
rs10759930
1 1.000 0.040 9 117699343 upstream gene variant C/T snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs11241095
rs11241095
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs12025126
rs12025126
2 0.925 0.040 1 8699495 intron variant T/C snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1256031
rs1256031
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2006 2006
dbSNP: rs1900004
rs1900004
5 0.827 0.040 10 68241124 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1926320
rs1926320
2 0.925 0.040 13 36078480 intron variant T/C snv 0.27 0.010 < 0.001 1 2012 2012
dbSNP: rs1927914
rs1927914
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs199746824
rs199746824
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs2033008
rs2033008
1 1.000 0.040 2 105886129 intron variant T/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs2165241
rs2165241
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.010 1.000 1 2008 2008
dbSNP: rs2234926
rs2234926
3 0.882 0.040 1 171652385 missense variant C/T snv 0.15 0.11 0.010 1.000 1 2001 2001
dbSNP: rs2234927
rs2234927
4 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs2274755
rs2274755
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2018 2018
dbSNP: rs3213787
rs3213787
2 0.925 0.040 2 45419685 intron variant A/G snv 4.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs3825942
rs3825942
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.010 1.000 1 2008 2008
dbSNP: rs3858145
rs3858145
3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs4236601
rs4236601
4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2012 2012