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: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1190271
rs1190271
POPDC3
1 1.000 0.080 6 105176946 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1143643
rs1143643
IL1B
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1143630
rs1143630
IL1B
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3917356
rs3917356
IL1B
4 0.882 0.160 2 112834786 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs290481
rs290481
TCF7L2
9 0.827 0.200 10 113164066 intron variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10754339
rs10754339
VTCN1
3 0.882 0.120 1 117147650 3 prime UTR variant G/A snv 0.88 0.76 0.010 1.000 1 2009 2009
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs77382849
rs77382849
EIF3A
4 0.851 0.160 10 119050586 missense variant C/T snv 8.8E-03 4.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs7628626
rs7628626
CD80 ; TIMMDC1
2 0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2011 2011
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: 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: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs13252298
rs13252298
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.827 0.160 8 127082911 non coding transcript exon variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2016 2016