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: rs6796502
rs6796502 		3 0.882 0.080 3 46825376 downstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6905370
rs6905370
ESR1
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs704010
rs704010
ZMIZ1
4 0.851 0.080 10 79081391 intron variant T/C snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs7874234
rs7874234
TSC1
3 0.882 0.040 9 132937614 intron variant C/T snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs865686
rs865686
LOC105376214
4 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs981782
rs981782
HCN1
4 0.851 0.080 5 45285616 intron variant A/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs2236722
rs2236722
CYP19A1 ; MIR4713HG
4 0.851 0.120 15 51242798 missense variant A/G snv 3.4E-03 9.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs2602141
rs2602141
TP53BP1
9 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 0.010 1.000 1 2006 2006
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.020 1.000 2 2013 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2008 2008
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008