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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 13 1999 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.750 4 2007 2019
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: rs765625943
rs765625943
MTHFR
4 0.882 0.200 1 11803417 missense variant G/A snv 4.3E-06 0.010 1.000 1 2010 2010
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: rs2033962
rs2033962
ACVR1
1 1.000 0.040 2 157781929 intron variant A/C;T snv 0.010 1.000 1 2010 2010
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: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2017 2017
dbSNP: rs10514716
rs10514716
LOC105377110
1 1.000 0.040 3 59495862 intron variant A/G snv 9.6E-02 0.010 1.000 1 2011 2011
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: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs9839776
rs9839776
SOX2-OT
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17484063
rs17484063
NR3C2
1 1.000 0.040 4 148243753 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
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: rs2305957
rs2305957
HSPA4L
1 1.000 0.040 4 127811771 intron variant A/G snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs2883929
rs2883929
NR3C2
1 1.000 0.040 4 148299958 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
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: rs37389
rs37389
PRLR
1 1.000 0.040 5 35085078 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs41423247
rs41423247
NR3C1
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2010 2010
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: rs10485275
rs10485275
GRIK2
1 1.000 0.040 6 101718178 intron variant G/A;T snv 0.010 1.000 1 2011 2011
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