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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.571 7 2003 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 0.571 7 2003 2015
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.020 0.500 2 2011 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2011 2015
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2015 2015
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.020 1.000 2 2009 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 < 0.001 2 2011 2015
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2003 2010
dbSNP: rs1010419
rs1010419
1 1.000 0.080 15 86992870 intron variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs10152333
rs10152333
1 1.000 0.080 15 86311128 intron variant T/C snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs1042606
rs1042606
1 1.000 0.080 10 110510917 3 prime UTR variant A/C snv 0.64 0.010 1.000 1 2020 2020
dbSNP: rs1049269
rs1049269
1 1.000 0.080 10 72060243 3 prime UTR variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs11199993
rs11199993
2 0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs11265269
rs11265269
1 1.000 0.080 1 159758337 upstream gene variant T/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1128306
rs1128306
2 0.925 0.120 6 29975492 non coding transcript exon variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs12290811
rs12290811
3 0.882 0.120 11 79372576 intron variant T/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1245560
rs1245560
1 1.000 0.080 10 72077662 intron variant A/C snv 0.51 0.710 1.000 1 2011 2011
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 < 0.001 1 2015 2015
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2006 2006
dbSNP: rs1440306
rs1440306
1 1.000 0.080 4 116954105 upstream gene variant T/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs1457319153
rs1457319153
1 1.000 0.080 3 49531991 missense variant A/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1497020
rs1497020
2 0.925 0.120 8 20144915 3 prime UTR variant G/A snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1610037
rs1610037
2 0.925 0.120 18 910634 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2007 2007