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: rs117983287
rs117983287
VPS13A
1 1.000 0.080 9 77405958 missense variant C/A snv 9.6E-03 8.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs13137
rs13137
VMP1 ; MIR21
5 0.827 0.160 17 59841670 3 prime UTR variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs2234237
rs2234237
TREM1
9 0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12 0.020 0.500 2 2012 2019
dbSNP: rs2234246
rs2234246
TREM1
5 0.827 0.240 6 41276002 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs5743867
rs5743867
TOLLIP
3 0.882 0.120 11 1307121 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs77874543
rs77874543
TNFRSF13C
3 0.882 0.080 22 41926712 missense variant G/C;T snv 6.1E-02 5.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs34557412
rs34557412
TNFRSF13B
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.040 1.000 4 2012 2017
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs5744105
rs5744105
TLR5
2 0.925 0.080 1 223142735 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.889 9 2002 2016
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.070 0.857 7 2002 2016
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 1.000 3 2008 2015
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2010 2011
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs5743551
rs5743551
TLR1
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.020 1.000 2 2014 2016
dbSNP: rs595209
rs595209
TIRAP
2 0.925 0.080 11 126292326 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs8177375
rs8177375
TIRAP
2 0.925 0.080 11 126293169 3 prime UTR variant A/G snv 0.12 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1153879
rs1153879
STAG1
2 0.925 0.080 3 136392816 intron variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013