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: rs13301660
rs13301660
SEC16A
1 1.000 0.040 9 136446350 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1389500636
rs1389500636
EGFR
6 0.827 0.080 7 55156796 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1412115
rs1412115 		2 0.925 0.080 10 33799125 regulatory region variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1460816
rs1460816
BRCA2
1 1.000 0.040 13 32354271 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs149906873
rs149906873
OCA2
1 1.000 0.040 15 28088564 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1607237
rs1607237
PIK3CA
1 1.000 0.040 3 179232509 intron variant C/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1670661
rs1670661
NELL1
2 1.000 0.040 11 21209124 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1770474
rs1770474
TNKS2
3 0.925 0.080 10 91833770 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17761864
rs17761864
SMG6
2 1.000 0.040 17 2268343 intron variant C/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1801320
rs1801320
RAD51 ; RAD51-AS1
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1801321
rs1801321
RAD51 ; RAD51-AS1
8 0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs181696
rs181696
PLCH1
3 0.925 0.080 3 155548315 intron variant T/C snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs2031920
rs2031920
CYP2E1 ; LOC107984284
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs2071230
rs2071230
MMP1 ; WTAPP1
3 0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs2233678
rs2233678
PIN1 ; LOC100996288
14 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2233679
rs2233679
PIN1 ; LOC100996288
11 0.763 0.360 19 9834678 splice region variant C/T snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs2239612
rs2239612
ST6GAL1
2 1.000 0.040 3 187075454 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2239815
rs2239815
XBP1
3 0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2252070
rs2252070
MMP13
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.010 1.000 1 2019 2019