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: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs12611091
rs12611091
BRSK1
2 0.925 0.080 19 55288961 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs13172105
rs13172105
ADAMTS16 ; LOC101929200
2 0.925 0.080 5 5289469 intron variant A/C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1321108
rs1321108
TSHB
2 0.925 0.080 1 115029744 upstream gene variant A/G snv 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs1375722963
rs1375722963
PGRMC1
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs155979
rs155979
PCSK1 ; LOC101929710
2 0.925 0.080 5 96434194 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1611114
rs1611114
DBH
3 0.882 0.120 9 133635081 upstream gene variant C/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2278493
rs2278493
HK3
2 0.925 0.080 5 176887433 intron variant C/T snv 0.36 0.29 0.010 1.000 1 2014 2014
dbSNP: rs3108910
rs3108910 		2 0.925 0.080 8 100800465 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs3762986
rs3762986
PCSK1 ; LOC101929710
2 0.925 0.080 5 96435158 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3773661
rs3773661
TGFBR2
2 0.925 0.080 3 30686798 intron variant G/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3847153
rs3847153 		2 0.925 0.080 8 100800928 intergenic variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs7530810
rs7530810
TSHB
2 0.925 0.080 1 115027847 upstream gene variant G/A snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs246246
rs246246
ADAMTS19
3 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.010 1.000 1 2013 2013
dbSNP: rs722910
rs722910
FST
2 0.925 0.080 5 53485767 3 prime UTR variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs140531439
rs140531439
WNT4
2 0.925 0.080 1 22129830 synonymous variant C/A;T snv 1.2E-05; 3.2E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs1435998287
rs1435998287
SF1
2 0.925 0.080 11 64778294 synonymous variant C/T snv 1.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs146180399
rs146180399
CITED2
2 0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs20558
rs20558
LAMC1
2 0.925 0.080 1 183125412 missense variant T/C snv 0.58 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2012 2012
dbSNP: rs28943592
rs28943592
HSD17B4
2 0.925 0.080 5 119536489 missense variant C/T snv 7.0E-03 2.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs587778430
rs587778430
KDR
7 0.807 0.280 4 55110466 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012