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: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.030 1.000 3 2004 2008
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 2004 2013
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2004 2012
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs144588452
rs144588452
1 9 104784371 missense variant C/T snv 2.2E-04 1.5E-04 0.010 1.000 1 2004 2004
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2005 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.060 0.833 6 2005 2019
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.030 0.667 3 2005 2012
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 0.500 2 2005 2012
dbSNP: rs1234442507
rs1234442507
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.020 1.000 2 2005 2007
dbSNP: rs1979277
rs1979277
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.020 0.500 2 2005 2011
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2005 2007
dbSNP: rs463312
rs463312
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.020 1.000 2 2005 2007
dbSNP: rs5918
rs5918
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.020 1.000 2 2005 2016
dbSNP: rs11739136
rs11739136
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 < 0.001 1 2005 2005
dbSNP: rs2266780
rs2266780
9 0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14 0.010 1.000 1 2005 2005
dbSNP: rs35457250
rs35457250
5 0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs4917
rs4917
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2005 2005
dbSNP: rs4918
rs4918
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 1.000 1 2005 2005
dbSNP: rs693482
rs693482
1 1 64897943 intron variant A/C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 < 0.001 1 2005 2005