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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2006 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2006 2007
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2006 2007
dbSNP: rs12947788
rs12947788
TP53
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.700 1.000 7 2008 2016
dbSNP: rs587780059
rs587780059
PMS2 ; AIMP2
5 0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 3 2015 2016
dbSNP: rs1554308880
rs1554308880
PMS2 ; AIMP2
1 1.000 0.160 7 6008969 intron variant CACCGGAA/- delins 0.700 0
dbSNP: rs141577476
rs141577476
PMS2
3 1.000 0.160 7 6005967 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1554306445
rs1554306445
PMS2
2 1.000 0.160 7 6005948 splice acceptor variant CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA/ATTT delins 0.700 0
dbSNP: rs1554306353
rs1554306353
PMS2
1 1.000 0.160 7 6005921 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 25 1995 2018
dbSNP: rs587779329
rs587779329
PMS2
1 1.000 0.160 7 6005890 splice donor variant A/G snv 0.700 0
dbSNP: rs587779324
rs587779324
PMS2
1 1.000 0.160 7 6004060 splice acceptor variant T/C snv 0.700 0
dbSNP: rs63750793
rs63750793
PMS2
2 0.925 0.200 7 6004040 frameshift variant T/- del 0.700 0
dbSNP: rs587779336
rs587779336
PMS2
1 1.000 0.160 7 6004001 frameshift variant -/CA delins 0.700 0
dbSNP: rs587779340
rs587779340
PMS2
7 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 3 2008 2015
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 13 1995 2016
dbSNP: rs758304323
rs758304323
PMS2
4 0.925 0.160 7 5999277 splice acceptor variant T/C snv 1.2E-05 0.700 1.000 4 2013 2017
dbSNP: rs988423880
rs988423880
PMS2
3 1.000 0.160 7 5999276 splice acceptor variant C/G snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs63751029
rs63751029
PMS2
1 1.000 0.160 7 5999270 frameshift variant A/- del 0.700 0
dbSNP: rs267608148
rs267608148
PMS2
1 1.000 0.160 7 5999219 frameshift variant -/A delins 7.0E-06 0.700 0
dbSNP: rs760228510
rs760228510
PMS2
6 0.925 0.240 7 5999182 stop gained G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs376258383
rs376258383
PMS2
1 1.000 0.160 7 5999131 missense variant C/T snv 3.6E-05 4.9E-05 0.010 1.000 1 2002 2002