Source: ALL
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: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs611646
rs611646
ATM
3 0.882 0.120 11 108306370 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 < 0.001 1 2007 2007
dbSNP: rs375129361
rs375129361
BAP1
2 0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs869025212
rs869025212
BAP1
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2015
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2014 2014
dbSNP: rs1982809
rs1982809
BTLA ; LOC112268446
3 0.882 0.200 3 112463893 downstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1800645
rs1800645
CALB1
1 1.000 0.120 8 90083245 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1944129
rs1944129
CCND1
1 1.000 0.120 11 69639167 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7177
rs7177
CCND1
2 1.000 0.120 11 69651347 3 prime UTR variant C/A snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2013 2013
dbSNP: rs2050462
rs2050462
CSF1
2 0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs333951
rs333951
CSF1
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs2504106
rs2504106
DAAM2
2 0.925 0.120 6 39854343 intron variant A/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs6937133
rs6937133
DAAM2
2 0.925 0.120 6 39832238 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs17037102
rs17037102
DKK2
6 0.807 0.240 4 106924637 missense variant C/A;T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs2291599
rs2291599
DKK3
2 0.925 0.120 11 11968352 intron variant T/C snv 0.83 0.85 0.010 1.000 1 2009 2009
dbSNP: rs3206824
rs3206824
DKK3
6 0.827 0.160 11 11964514 missense variant T/C snv 0.78 0.78 0.010 1.000 1 2009 2009
dbSNP: rs7396187
rs7396187
DKK3
2 0.925 0.120 11 11967604 intron variant C/G snv 0.84 0.010 1.000 1 2009 2009
dbSNP: rs11708581
rs11708581
DNAH1
5 0.827 0.160 3 52394972 synonymous variant C/A snv 8.3E-02 7.7E-02 0.010 1.000 1 2017 2017