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: rs2033962
rs2033962
ACVR1
1 1.000 0.040 2 157781929 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1371086615
rs1371086615
APC
4 0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs765557332
rs765557332
APC
4 0.851 0.120 5 112835075 missense variant G/A snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs878853423
rs878853423
APC
4 0.851 0.120 5 112837663 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 < 0.001 1 2019 2019
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs1434830576
rs1434830576
CYP7A1
1 1.000 0.040 8 58498449 missense variant A/G snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2020 2020
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2020 2020
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.050 1.000 5 2000 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.040 1.000 4 2002 2016
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 2005 2016
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs61886492
rs61886492
FOLH1
12 0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs587776454
rs587776454
GATA1
4 0.851 0.160 X 48792346 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs3738880
rs3738880
GLI2
4 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.010 1.000 1 2014 2014
dbSNP: rs1671152
rs1671152
GP6 ; LOC107985325
5 0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81 0.010 1.000 1 2015 2015
dbSNP: rs10485275
rs10485275
GRIK2
1 1.000 0.040 6 101718178 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs199574576
rs199574576
GRK4 ; NOP14
1 1.000 0.040 4 2963184 missense variant G/C;T snv 7.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs1211942227
rs1211942227
HRG ; LOC105374258
1 1.000 0.040 3 186677347 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2305957
rs2305957
HSPA4L
1 1.000 0.040 4 127811771 intron variant A/G snv 0.67 0.010 1.000 1 2017 2017