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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.860 1.000 7 2010 2015
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.060 1.000 6 2010 2017
dbSNP: rs258322
rs258322
CDK10
3 0.925 0.120 16 89689495 intron variant A/G;T snv 0.800 1.000 6 2009 2017
dbSNP: rs7023329
rs7023329
MTAP
9 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.810 1.000 5 2009 2017
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 4 2009 2017
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 4 2011 2019
dbSNP: rs4911442
rs4911442
NCOA6
2 1.000 0.040 20 34767243 intron variant G/A snv 0.93 0.720 1.000 3 2008 2014
dbSNP: rs910873
rs910873
PIGU
3 0.882 0.160 20 34583968 intron variant G/A;C snv 0.810 0.667 3 2008 2017
dbSNP: rs10757257
rs10757257
MTAP
3 0.882 0.080 9 21806565 intron variant G/A snv 0.34 0.710 1.000 2 2009 2012
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.800 1.000 2 2011 2017
dbSNP: rs132985
rs132985
PLA2G6
5 0.827 0.120 22 38167464 intron variant C/T snv 0.51 0.710 1.000 2 2009 2012
dbSNP: rs16953002
rs16953002
FTO
5 0.882 0.080 16 54080912 intron variant G/A snv 0.19 0.800 1.000 2 2013 2017
dbSNP: rs17305657
rs17305657
BPIFA3
1 1.000 0.040 20 33218782 intron variant T/C snv 5.2E-02 0.700 1.000 2 2008 2011
dbSNP: rs1885120
rs1885120
MYH7B ; MIR499A ; LOC107985393
2 1.000 0.040 20 34989186 intron variant C/G snv 0.96 0.800 1.000 2 2008 2017
dbSNP: rs3219090
rs3219090
PARP1
1 1.000 0.040 1 226376990 intron variant T/C snv 0.58 0.820 1.000 2 2011 2013
dbSNP: rs4238833
rs4238833
AFG3L1P
2 1.000 0.040 16 89984281 intron variant G/T snv 0.60 0.700 1.000 2 2011 2012
dbSNP: rs7412746
rs7412746
CTXND2
1 1.000 0.040 1 150887995 intron variant C/T snv 0.41 0.800 1.000 2 2011 2017
dbSNP: rs10231520
rs10231520
ABCB5
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs10515789
rs10515789
EBF1
1 1.000 0.040 5 159079407 intron variant T/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs10739221
rs10739221
LINC01505
5 0.851 0.080 9 106298549 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10754833
rs10754833
NID1
4 0.851 0.040 1 236021631 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10830253
rs10830253
TYR
4 0.851 0.080 11 89294875 intron variant T/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10852628
rs10852628
DBNDD1
1 1.000 0.040 16 90013519 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs10951982
rs10951982
RAC1
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 1.000 1 2018 2018