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: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 0.667 3 2015 2015
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 < 0.001 1 2011 2011
dbSNP: rs17026425
rs17026425
IQCM
4 0.882 0.080 4 149751362 intron variant G/A snv 4.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs9365723
rs9365723
SYNJ2
5 0.827 0.080 6 158014540 intron variant A/C;G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs322351
rs322351
DUSP1
3 0.925 0.160 5 172767870 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs4596
rs4596
GTF2H1
2 1.000 0.080 11 18366581 3 prime UTR variant G/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2017 2017
dbSNP: rs11721827
rs11721827
TLR3
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs3775292
rs3775292
TLR3
5 0.851 0.080 4 186081871 non coding transcript exon variant C/G snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs266729
rs266729
ADIPOQ
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs5743030
rs5743030
PMS1
1 1.000 0.080 2 189813819 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs5743100
rs5743100
PMS1
1 1.000 0.080 2 189841127 intron variant G/T snv 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2228545
rs2228545
BMPR2
1 1.000 0.080 2 202555989 missense variant G/A snv 2.4E-02 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 < 0.001 1 2009 2009
dbSNP: rs2273626
rs2273626
HAUS4 ; MIR4707
2 0.925 0.120 14 22956973 mature miRNA variant C/A snv 0.58 0.41 0.010 1.000 1 2018 2018
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2017 2017