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: 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: 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: rs1053023
rs1053023
STAT3
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 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: 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: rs1369837875
rs1369837875
PLA2G6
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1411224107
rs1411224107
SERPINE1
4 0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1671215
rs1671215
RDH13 ; LOC107985325
1 1.000 0.040 19 55041651 3 prime UTR variant C/A snv 0.65 0.010 1.000 1 2015 2015
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: rs2288947
rs2288947
TINCR
5 0.827 0.160 19 5562104 3 prime UTR variant G/A snv 0.45 0.010 < 0.001 1 2019 2019
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: 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: 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: rs569954362
rs569954362
SLC19A1
4 0.851 0.160 21 45530871 synonymous variant G/A snv 0.010 1.000 1 2016 2016
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: 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