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: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs121913387
rs121913387
CDKN2A
6 0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06 0.010 1.000 1 2003 2003
dbSNP: rs201701502
rs201701502
DDR2
5 0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2012 2012
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2015 2015
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 0.010 1.000 1 2017 2017
dbSNP: rs3138035
rs3138035
CCL8
3 0.882 0.080 17 34318930 upstream gene variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs372266620
rs372266620
CDKN2A
2 0.925 0.120 9 21971189 missense variant G/A;C;T snv 9.1E-05; 2.3E-05; 9.1E-06 0.010 1.000 1 2003 2003
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 2017 2017
dbSNP: rs550846229
rs550846229
CDKN2A
1 1.000 0.040 9 21974658 missense variant G/A;C snv 5.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs775176191
rs775176191
CDKN2A
1 1.000 0.040 9 21974745 missense variant A/C snv 0.010 1.000 1 2003 2003