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: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 0.500 2 2015 2016
dbSNP: rs2032809
rs2032809
BBC3
3 0.882 0.120 19 47232959 upstream gene variant T/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs2742976
rs2742976
E2F2
3 0.882 0.240 1 23531510 upstream gene variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3136038
rs3136038
ERCC4
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs3213182
rs3213182
E2F1 ; NECAB3
1 1.000 0.040 20 33675427 upstream gene variant A/C snv 7.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs3218123
rs3218123
E2F2
2 0.925 0.120 1 23531364 upstream gene variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs6554198
rs6554198
KIT
1 1.000 0.040 4 54655993 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6667575
rs6667575
E2F2
1 1.000 0.040 1 23533029 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs7834169
rs7834169 		3 0.925 0.120 8 27052774 upstream gene variant C/G snv 0.16 0.010 1.000 1 2017 2017
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: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1057519996
rs1057519996
TP53
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 < 0.001 3 2007 2014
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 < 0.001 1 2007 2007
dbSNP: rs1257821596
rs1257821596
AVP
1 1.000 0.040 20 3083027 frameshift variant -/C delins 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 0.800 5 2010 2017
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.040 1.000 4 2010 2016
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 < 0.001 1 2016 2016