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: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.020 1.000 2 2012 2018
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: rs11258194
rs11258194
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.060 1.000 6 2003 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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2009 2016
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: rs1333037
rs1333037
3 0.925 0.040 9 22040766 intron variant C/T snv 0.71 0.700 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2012 2016
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: rs2041895
rs2041895
1 1.000 0.040 12 106956310 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2012 2017
dbSNP: rs2149356
rs2149356
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.020 1.000 2 2008 2019
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