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: rs11206510
rs11206510
16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 6 2008 2013
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.700 1.000 5 2008 2013
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.700 1.000 4 2008 2012
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 4 2010 2013
dbSNP: rs1801689
rs1801689
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.700 1.000 3 2012 2013
dbSNP: rs2228671
rs2228671
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 1.000 3 2008 2012
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.700 1.000 2 2010 2013
dbSNP: rs11806638
rs11806638
3 1 55052487 intron variant C/A;G snv 0.700 1.000 2 2012 2012
dbSNP: rs2072183
rs2072183
6 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.700 1.000 2 2010 2013
dbSNP: rs2255141
rs2255141
5 10 112174128 intron variant A/G;T snv 0.700 1.000 2 2010 2013
dbSNP: rs2902940
rs2902940
3 20 40462847 regulatory region variant A/G;T snv 0.700 1.000 2 2010 2013
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2012 2013
dbSNP: rs499883
rs499883
3 1 55053501 intron variant G/A;C snv 0.700 1.000 2 2012 2012
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 2 2010 2013
dbSNP: rs6657811
rs6657811
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.700 1.000 2 2008 2012
dbSNP: rs10260606
rs10260606
3 7 44544952 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1065853
rs1065853
5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10789117
rs10789117
5 1 62606594 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10916704
rs10916704
3 1 20074498 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11024739
rs11024739
3 11 18624296 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs11206517
rs11206517
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1146586
rs1146586
2 1 75762289 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11466654
rs11466654
4 4 38774508 synonymous variant T/C;G snv 1.1E-03; 1.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs11569302
rs11569302
4 20 46118465 intron variant C/G;T snv 0.700 1.000 1 2012 2012