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: rs9856
rs9856
XIAP
4 0.925 0.120 X 123911791 3 prime UTR variant C/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs9651118
rs9651118
MTHFR
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 < 0.001 1 2014 2014
dbSNP: rs9623117
rs9623117
TNRC6B
4 0.851 0.200 22 40056115 intron variant T/C snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2011 2011
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs911178
rs911178
ZBED9
2 0.925 0.120 6 28606638 intron variant T/C snv 0.89 0.010 1.000 1 2017 2017
dbSNP: rs9034
rs9034
NAMPT
5 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs8904
rs8904
NFKBIA
4 0.925 0.120 14 35402011 3 prime UTR variant G/A;C;T snv 0.39; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs886205
rs886205
ALDH2
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2003 2017
dbSNP: rs875339
rs875339
RORA
1 1.000 0.080 15 60803856 intron variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2012 2016
dbSNP: rs8506
rs8506
TDRG1
2 1.000 0.080 6 40379813 non coding transcript exon variant C/T snv 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs8371
rs8371
XIAP
4 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 0.010 1.000 1 2017 2017
dbSNP: rs829232
rs829232
LOC105378438
1 1.000 0.080 10 93991070 intergenic variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs8126
rs8126
TNFAIP2
8 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs80359065
rs80359065
BRCA2
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs80358920
rs80358920
BRCA2
14 0.732 0.400 13 32346841 stop gained C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs7922612
rs7922612
PLCE1
14 0.752 0.080 10 94051682 intron variant C/T snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs7813
rs7813
GEMIN4
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.020 1.000 2 2014 2014
dbSNP: rs7804372
rs7804372
CAV1
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.010 1.000 1 2014 2014