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: 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: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
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: rs769825641
rs769825641
SYCP3 ; CHPT1
2 1.000 0.040 12 101729109 splice region variant A/G snv 5.6E-05 0.010 < 0.001 1 2011 2011
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: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.750 4 2007 2019
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: 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: 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: 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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 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: 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: 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: 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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2004 2004
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: rs2033962
rs2033962
ACVR1
1 1.000 0.040 2 157781929 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs774229224
rs774229224
PLG
6 0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs764948729
rs764948729
PLG
3 0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013