Source: BEFREE ×
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: rs1048945
rs1048945
APEX1 ; OSGEP
6 0.851 0.120 14 20456008 missense variant G/C snv 2.1E-02 2.4E-02 0.020 1.000 2 2007 2013
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.030 0.667 3 2013 2018
dbSNP: rs1049334
rs1049334
CAV1
5 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1050171
rs1050171
EGFR ; EGFR-AS1
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.030 1.000 3 2013 2015
dbSNP: rs10505346
rs10505346
TNFRSF11B ; COLEC10
4 0.925 0.080 8 118951604 intron variant G/T snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs10505476
rs10505476
POU5F1B ; CASC8 ; PCAT1
3 8 127395871 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
19 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs1051730
rs1051730
CHRNA3
37 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.030 1.000 3 2011 2016
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.400 5 1996 2014
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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.955 22 2002 2018
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.020 1.000 2 2013 2017
dbSNP: rs1052823
rs1052823
TNFAIP2
3 1.000 0.040 14 103137233 3 prime UTR variant G/A;C;T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1052912
rs1052912
TNFAIP2
3 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1053667
rs1053667
TOGARAM1
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1056628
rs1056628
MMP9 ; SLC12A5-AS1
2 20 46016407 3 prime UTR variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1056663
rs1056663
HUS1
3 1.000 7 47965365 synonymous variant C/T snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2010 2015
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 2015 2015
dbSNP: rs1057516968
rs1057516968
DPYD
2 1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2019 2019