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: rs121913452
rs121913452
ABL1
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10065633
rs10065633
IRF1-AS1
1 1.000 0.040 5 132481024 intron variant T/C snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2017 2017
dbSNP: rs947141826
rs947141826
MTG1
2 0.925 0.040 10 133394281 missense variant C/T snv 2.1E-05 0.010 1.000 1 1993 1993
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2011 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2011 2018
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2014 2016
dbSNP: rs397507476
rs397507476
BRAF
4 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2010 2010
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs2308950
rs2308950
CASP9
3 0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs556915505
rs556915505
MECOM
5 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs869312828
rs869312828
DDX41 ; DOK3
7 0.807 0.080 5 177512369 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1360698171
rs1360698171
RNASEL
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs1801280
rs1801280
NAT2
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2012 2012
dbSNP: rs10931910
rs10931910
AOX1
2 0.925 0.040 2 200659013 intron variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs3116496
rs3116496
CD28
11 0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018