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: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10504961
rs10504961
UQCRB
1 1.000 0.080 8 96227901 3 prime UTR variant C/T snv 0.41 0.46 0.010 1.000 1 2017 2017
dbSNP: rs1051208
rs1051208
RAF1
1 1.000 0.080 3 12584248 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1051424
rs1051424
RPS6KB1
3 0.925 0.080 17 59946963 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1051624
rs1051624
CDH17
1 1.000 0.080 8 94130944 missense variant T/A;G snv 2.0E-05; 0.51 0.010 1.000 1 2012 2012
dbSNP: rs1051669
rs1051669
RAD52
1 1.000 0.080 12 913286 3 prime UTR variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1051690
rs1051690
INSR
4 0.851 0.080 19 7116952 3 prime UTR variant T/C snv 0.83 0.010 1.000 1 2011 2011
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052371
rs1052371
INSR
1 1.000 0.080 19 7112582 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1052748
rs1052748
PLD2
2 0.925 0.080 17 4817174 missense variant C/T snv 0.39 0.36 0.010 1.000 1 2003 2003
dbSNP: rs1052918
rs1052918
TCF3
1 1.000 0.080 19 1609670 3 prime UTR variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
10 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519890
rs1057519890
ERBB2
8 0.807 0.200 17 39723966 missense variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519943
rs1057519943
POLE
10 0.790 0.160 12 132676598 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057911
rs1057911
CYP2C9
1 1.000 0.080 10 94988980 synonymous variant A/T snv 6.3E-02 4.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs1062044
rs1062044
LAMC1
1 1.000 0.080 1 183143277 3 prime UTR variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1063169
rs1063169
FOS
2 0.925 0.080 14 75280415 5 prime UTR variant G/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1064795747
rs1064795747
MSH2
4 0.925 0.080 2 47412433 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1064795841
rs1064795841
TP53
4 0.882 0.080 17 7674971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1065411
rs1065411
GSTM1 ; GSTM2
2 0.925 0.080 1 109690516 missense variant G/A;C;T snv 0.36; 6.9E-06 0.010 1.000 1 2010 2010
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2017 2017