Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61752717
rs61752717
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 0.988 81 1997 2020
dbSNP: rs28940578
rs28940578
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 36 1997 2017
dbSNP: rs28940579
rs28940579
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 1.000 33 1997 2019
dbSNP: rs28940580
rs28940580
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.890 1.000 46 1997 2016
dbSNP: rs11466023
rs11466023
0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.860 1.000 9 2008 2017
dbSNP: rs104895097
rs104895097
0.925 0.040 16 3243205 missense variant C/T snv 2.0E-04 1.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.850 1.000 27 1998 2020
dbSNP: rs11466024
rs11466024
0.925 0.080 16 3249468 missense variant C/A;T snv 1.6E-05; 1.3E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.840 1.000 6 1999 2016
dbSNP: rs61732874
rs61732874
0.925 0.040 16 3243257 missense variant C/A;T snv 1.8E-03; 1.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.820 1.000 28 1998 2018
dbSNP: rs104895094
rs104895094
0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.810 1.000 16 1998 2016
dbSNP: rs104895081
rs104895081
0.925 0.080 16 3254268 missense variant G/A snv 1.6E-04 1.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.810 1.000 3 2010 2015
dbSNP: rs3743930
rs3743930
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 0.972 36 1999 2020
dbSNP: rs104895085
rs104895085
1.000 0.040 16 3243529 missense variant C/T snv 3.2E-05 7.0E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 1.000 14 2001 2016
dbSNP: rs104895083
rs104895083
0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 1.000 9 1998 2015
dbSNP: rs104895128
rs104895128
0.882 0.160 16 3243593 missense variant C/A;T snv 3.7E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 1.000 8 2007 2015
dbSNP: rs104895079
rs104895079
1.000 0.040 16 3254567 missense variant C/G snv 4.4E-05 3.5E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 0
dbSNP: rs11466045
rs11466045
1.000 0.040 16 3243880 missense variant A/G snv 1.1E-02 1.0E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 0
dbSNP: rs11466018
rs11466018
0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.730 1.000 3 2008 2013
dbSNP: rs104895076
rs104895076
1.000 0.040 16 3254625 missense variant T/A;G snv 7.7E-05; 4.3E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.710 1.000 1 2017 2017
dbSNP: rs104895091
rs104895091
0.925 0.040 16 3243404 inframe deletion CAT/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 14 1998 2017
dbSNP: rs780770024
rs780770024
1.000 0.040 16 3243872 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 10 1997 2014
dbSNP: rs104895093
rs104895093
1.000 0.040 16 3243409 inframe deletion TAT/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 8 1998 2015
dbSNP: rs150819742
rs150819742
1.000 0.040 16 3256338 missense variant C/G;T snv 8.0E-06; 1.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 6 2008 2015
dbSNP: rs1355225244
rs1355225244
1.000 0.040 16 3243442 frameshift variant AG/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 4 1998 2015
dbSNP: rs876660997
rs876660997
1.000 0.040 16 3243600 frameshift variant -/A delins 4.1E-06 2.8E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 4 1998 2015
dbSNP: rs104895080
rs104895080
0.882 0.160 16 3254380 missense variant C/G;T snv 6.3E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.700 1.000 2 2013 2015