Source: ALL

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: rs1355225244
rs1355225244
MEFV
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: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.040 1.000 4 2000 2005
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.040 1.000 4 2000 2015
dbSNP: rs876660997
rs876660997
MEFV
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: rs104895081
rs104895081
MEFV
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: rs11466018
rs11466018
MEFV
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: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2004 2010
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 1.000 3 2010 2019
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.030 1.000 3 2010 2018
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0015967
Disease: Fever
Fever 		0.030 1.000 3 2000 2016
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		0.030 0.667 3 2004 2017
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.030 0.667 3 2004 2017
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 1.000 3 2011 2019
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0006309
Disease: Brucellosis
Brucellosis 		0.030 1.000 3 2015 2018
dbSNP: rs104895080
rs104895080
MEFV
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
dbSNP: rs104895086
rs104895086
MEFV
1.000 0.040 16 3243520 missense variant T/G snv 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895087
rs104895087
MEFV
1.000 0.040 16 3243463 missense variant C/T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895088
rs104895088
MEFV
1.000 0.040 16 3243454 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895089
rs104895089
MEFV
1.000 0.040 16 3243449 missense variant T/C;G snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895090
rs104895090
MEFV
1.000 0.040 16 3243445 missense variant G/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895096
rs104895096
MEFV
1.000 0.040 16 3243377 missense variant C/T snv 3.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895102
rs104895102
MEFV
1.000 0.040 16 3243327 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895103
rs104895103
MEFV
1.000 0.040 16 3254746 missense variant T/C;G snv 8.1E-06; 8.1E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895104
rs104895104
MEFV
1.000 0.040 16 3247183 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895106
rs104895106
MEFV
1.000 0.040 16 3254580 missense variant T/C;G snv 4.9E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015