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: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2003 2012
dbSNP: rs10090114
rs10090114
MSRA
1 8 10147444 intron variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs1336708
rs1336708
FGF14 ; FGF14-IT1 ; LOC107984615
1 13 102312653 intron variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs3774968
rs3774968
NFKB1 ; LOC105377347
4 0.882 0.120 4 102609955 intron variant A/G snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs6956101
rs6956101
RELN ; LOC101927870
1 7 103508155 intron variant A/G snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs79795993
rs79795993
LINC02401
1 12 103567986 intron variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs12981279
rs12981279 		1 19 10528857 intergenic variant T/C snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs4734879
rs4734879
ZFPM2 ; ZFPM2-AS1
2 8 105570896 intron variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs4541868
rs4541868
ZFPM2 ; ZFPM2-AS1
1 8 105578477 intron variant C/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs4602861
rs4602861
ZFPM2 ; ZFPM2-AS1
1 8 105578478 intron variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs190310665
rs190310665
MGC4859
1 7 10580010 intron variant T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs28562194
rs28562194
ATXN7L1
1 7 105862160 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs4548995
rs4548995
SLC44A2
1 19 10630195 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.720 0.750 4 2015 2020
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs143928955
rs143928955
DNM2
1 19 10732057 intron variant C/G snv 4.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs774723292
rs774723292
LDLR
4 1.000 0.080 19 11105249 missense variant C/T snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.020 1.000 2 1995 2003
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs41496644
rs41496644
ANK2
1 4 112933404 intron variant T/A;G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs3211752
rs3211752
F10
1 13 113133145 intron variant A/G snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs12732487
rs12732487
SYT6
1 1 114120337 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019