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: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs3218625
rs3218625
PTGS2
2 0.925 0.240 1 186674409 missense variant C/T snv 1.6E-03 5.0E-04 0.010 1.000 1 2009 2009
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 < 0.001 1 2014 2014
dbSNP: rs3829868
rs3829868
CRNN ; FLG-AS1
2 0.925 0.080 1 152409644 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2009 2009
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs4845882
rs4845882
C1orf167
3 0.882 0.120 1 11783110 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
10 0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs6573
rs6573
RAP1A ; INKA2
1 1.000 0.080 1 111712767 3 prime UTR variant C/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs6588147
rs6588147
LEPR
4 0.851 0.080 1 65469811 intron variant G/A snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs6683039
rs6683039
IL23R ; C1orf141
1 1.000 0.080 1 67165650 intron variant C/T snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs759640288
rs759640288
PIK3CD
1 1.000 0.080 1 9720853 missense variant G/A snv 8.3E-06 0.010 < 0.001 1 2015 2015
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: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2014 2016
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.700 1.000 1 2014 2014
dbSNP: rs1595066
rs1595066
ERBB4
4 0.882 0.080 2 211377000 3 prime UTR variant C/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs16845990
rs16845990
ERBB4
4 0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2016 2016
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2244438
rs2244438
TRAK2
4 0.882 0.080 2 201387816 missense variant G/A;T snv 0.29; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2396092
rs2396092
CUL3
1 1.000 0.080 2 224470573 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs36084323
rs36084323
PDCD1
8 0.807 0.280 2 241859444 upstream gene variant C/T snv 5.4E-02 0.010 1.000 1 2016 2016