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 1.000 3 2012 2018
dbSNP: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.030 1.000 3 2012 2018
dbSNP: rs2301365
rs2301365
PRM1 ; RMI2 ; LOC105371082
1 16 11281429 intron variant G/T snv 0.21 0.030 1.000 3 2015 2018
dbSNP: rs28368082
rs28368082
SPO11
1 20 57335452 missense variant C/T snv 5.7E-05 0.030 1.000 3 2011 2017
dbSNP: rs553509
rs553509
H2BW1
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.030 1.000 3 2012 2018
dbSNP: rs10129954
rs10129954
DPF3
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.020 1.000 2 2018 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2013 2018
dbSNP: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.020 1.000 2 2014 2019
dbSNP: rs121965059
rs121965059
OAT
4 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.020 1.000 2 2005 2015
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.020 1.000 2 2009 2014
dbSNP: rs1646022
rs1646022
PRM2 ; RMI2 ; LOC105371082
1 16 11276073 intron variant C/G;T snv 0.37 0.020 1.000 2 2017 2018
dbSNP: rs175080
rs175080
MLH3
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.020 1.000 2 2010 2015
dbSNP: rs1799930
rs1799930
NAT2
17 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 0.020 1.000 2 2014 2018
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2016
dbSNP: rs2292596
rs2292596
AHRR
7 0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 0.020 1.000 2 2004 2019
dbSNP: rs6259
rs6259
SHBG
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.020 1.000 2 2011 2017
dbSNP: rs7354779
rs7354779
DNMT3L ; DNMT3L-AS1
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.020 1.000 2 2012 2017
dbSNP: rs1042389
rs1042389
CYP2B6
1 19 41018248 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2014 2014
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 2014 2014
dbSNP: rs1050482
rs1050482
SLC20A1
1 2 112663757 3 prime UTR variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs1059060
rs1059060
PMS2
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2019 2019