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: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
TP53
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs114242735
rs114242735
GPX6
1 1.000 0.080 6 28515140 intron variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114274879
rs114274879
VARS2
1 1.000 0.080 6 30914638 5 prime UTR variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114665747
rs114665747 		1 1.000 0.080 6 32231204 intergenic variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114937304
rs114937304
TSBP1 ; TSBP1-AS1
1 1.000 0.080 6 32373094 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs114951367
rs114951367
HLA-DMB
1 1.000 0.080 6 32936274 non coding transcript exon variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115390513
rs115390513 		1 1.000 0.080 6 31208169 downstream gene variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs116310021
rs116310021 		1 1.000 0.080 6 30383571 intergenic variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116418332
rs116418332
TRIM26
2 0.925 0.080 6 30193759 intron variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs116461399
rs116461399 		2 0.925 0.080 6 28828294 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs116480994
rs116480994
ZNRD1
2 0.925 0.080 6 30064745 3 prime UTR variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116725014
rs116725014
MUC22
1 1.000 0.080 6 31018051 intron variant G/A snv 0.700 1.000 1 2017 2017