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: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 < 0.001 1 2003 2003
dbSNP: rs750018164
rs750018164
1 1.000 0.120 12 10450529 missense variant A/G;T snv 4.0E-06; 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs755133321
rs755133321
1 1.000 0.120 15 74723072 missense variant G/A snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs769283795
rs769283795
1 1.000 0.120 12 10313425 missense variant A/G;T snv 8.2E-06 0.010 1.000 1 2003 2003
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.905 21 2004 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.545 11 2004 2015
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.100 0.909 11 2004 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.070 1.000 7 2004 2015
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.060 0.833 6 2004 2013
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 0.750 4 2004 2012
dbSNP: rs2372536
rs2372536
5 0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25 0.030 1.000 3 2004 2016
dbSNP: rs1160209185
rs1160209185
GGH
1 1.000 0.120 8 63038689 missense variant T/C snv 7.0E-06 0.020 1.000 2 2004 2018
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 2016
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs1253660442
rs1253660442
4 0.851 0.160 21 45531871 missense variant G/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1477353313
rs1477353313
ACR
2 0.925 0.120 22 50744085 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1863800
rs1863800
1 1.000 0.120 2 203837937 intergenic variant C/T snv 0.39 0.010 1.000 1 2004 2004
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.877 81 2005 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.040 1.000 4 2005 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.040 0.750 4 2005 2013
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.710 1.000 4 2005 2011
dbSNP: rs3792876
rs3792876
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.040 0.500 4 2005 2015