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: rs10485275
rs10485275
GRIK2
1 1.000 0.040 6 101718178 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10511668
rs10511668
SAXO1
1 1.000 0.040 9 19022472 intron variant C/T snv 0.35 0.010 1.000 1 2011 2011
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: 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: rs2033962
rs2033962
ACVR1
1 1.000 0.040 2 157781929 intron variant A/C;T snv 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: 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: rs341048
rs341048
PDE2A ; PDE2A-AS2
1 1.000 0.040 11 72587236 intron variant C/A;T snv 0.010 1.000 1 2011 2011
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: rs3843549
rs3843549
POU5F1B ; CASC8 ; PCAT1
1 1.000 0.040 8 127398235 intron variant G/A snv 0.88 0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.750 4 2007 2019
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: 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: 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: rs12720459
rs12720459
KCNQ1
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
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