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: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2016 2016
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2016 2016
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.020 1.000 2 2008 2010
dbSNP: rs368859219
rs368859219
TNFAIP3
1 1.000 0.040 6 137881228 missense variant G/A;T snv 7.4E-05; 8.2E-06 0.010 1.000 1 2020 2020
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2009 2011
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2009 2011
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.040 1.000 4 2006 2011
dbSNP: rs398124226
rs398124226
SEC23B
2 0.925 0.080 20 18525021 splice donor variant G/A;C snv 2.4E-05; 8.0E-06 0.700 1.000 3 2009 2014
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.900 0.988 81 1997 2020
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.890 1.000 46 1997 2016
dbSNP: rs28940578
rs28940578
MEFV
16 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.900 1.000 36 1997 2017
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.800 0.972 36 1999 2020
dbSNP: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.900 1.000 33 1997 2019
dbSNP: rs61732874
rs61732874
MEFV
2 0.925 0.040 16 3243257 missense variant C/A;T snv 1.8E-03; 1.2E-05 0.820 1.000 28 1998 2018
dbSNP: rs104895097
rs104895097
MEFV
2 0.925 0.040 16 3243205 missense variant C/T snv 2.0E-04 1.1E-04 0.850 1.000 27 1998 2020
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.810 1.000 16 1998 2016
dbSNP: rs104895085
rs104895085
MEFV
1 1.000 0.040 16 3243529 missense variant C/T snv 3.2E-05 7.0E-05 0.800 1.000 14 2001 2016
dbSNP: rs104895091
rs104895091
MEFV
2 0.925 0.040 16 3243404 inframe deletion CAT/- delins 0.700 1.000 14 1998 2017
dbSNP: rs780770024
rs780770024
MEFV
1 1.000 0.040 16 3243872 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 1997 2014
dbSNP: rs104895083
rs104895083
MEFV
2 0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05 0.800 1.000 9 1998 2015
dbSNP: rs11466023
rs11466023
MEFV
6 0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05 0.860 1.000 9 2008 2017
dbSNP: rs104895093
rs104895093
MEFV
1 1.000 0.040 16 3243409 inframe deletion TAT/- delins 0.700 1.000 8 1998 2015