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: rs6785617
rs6785617 		4 0.882 0.120 3 172501054 downstream gene variant A/T snv 3.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs7748275
rs7748275 		3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs3814113
rs3814113 		5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.020 1.000 2 2011 2012
dbSNP: rs633862
rs633862 		5 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 0.020 1.000 2 2014 2017
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs142091544
rs142091544 		2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs17702471
rs17702471
GPC6
2 0.925 0.120 13 93224864 upstream gene variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs3760396
rs3760396
CCL2
13 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2011 2011
dbSNP: rs67397200
rs67397200 		5 0.827 0.160 19 17290595 upstream gene variant C/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs7246045
rs7246045
CGB5
5 0.882 0.120 19 49042825 upstream gene variant T/G snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs7501462
rs7501462 		2 0.925 0.120 17 16974091 upstream gene variant A/G snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs9609538
rs9609538
RTCB ; BPIFC
2 0.925 0.120 22 32413845 upstream gene variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.050 1.000 5 2011 2018
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs2303428
rs2303428
MSH2
9 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs7526063
rs7526063
MTR
3 0.882 0.120 1 236808698 splice region variant C/T snv 3.8E-02 5.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.030 1.000 3 1999 2009
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2015