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: rs10887710
rs10887710 		2 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1547374
rs1547374
LOC105372815
2 0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs2762932
rs2762932
CYP24A1
3 0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs1552462
rs1552462 		2 0.925 0.120 11 7235910 upstream gene variant C/T snv 2.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs36115365
rs36115365 		7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.010 1.000 1 2011 2011
dbSNP: rs397507851
rs397507851
BRCA2
3 0.925 0.120 13 32340761 frameshift variant AAATGTT/- delins 0.700 1.000 1 2004 2004
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2011 2011
dbSNP: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs587776416
rs587776416
PALB2
5 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0
dbSNP: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs11571836
rs11571836
BRCA2
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1318
rs1318
PITPNC1 ; LOC101928045
2 0.925 0.120 17 67695266 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs17281995
rs17281995
CD86
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs17884306
rs17884306
TP53
2 0.925 0.120 17 7668783 3 prime UTR variant C/T snv 5.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs2235108
rs2235108
TRIB1
3 0.925 0.120 8 125436547 3 prime UTR variant G/A snv 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs372883
rs372883
BACH1
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs3749474
rs3749474
CLOCK ; TMEM165
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs3751936
rs3751936
RPTOR
2 0.925 0.120 17 80964404 3 prime UTR variant G/C snv 0.20 0.010 1.000 1 2019 2019