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: rs61754767
rs61754767
MEFV
1.000 0.040 16 3256464 missense variant G/A;T snv 3.1E-04; 8.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs1057516210
rs1057516210
MEFV
1.000 0.040 16 3244283 missense variant G/T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 1 2014 2014
dbSNP: rs11466018
rs11466018
MEFV
0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11466018
rs11466018
MEFV
0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.700 1.000 1 2005 2005
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 1.000 1 2005 2005
dbSNP: rs747515115
rs747515115
MEFV
1.000 0.040 16 3254779 stop gained G/A;C;T snv 2.4E-05; 4.1E-06; 5.7E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 1 2011 2011
dbSNP: rs104895091
rs104895091
MEFV
0.925 0.040 16 3243404 inframe deletion CAT/- delins
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs104895097
rs104895097
MEFV
0.925 0.040 16 3243205 missense variant C/T snv 2.0E-04 1.1E-04
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs104895098
rs104895098
MEFV
1.000 0.040 16 3243423 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 0
dbSNP: rs104895105
rs104895105
MEFV
0.851 0.120 16 3247171 missense variant G/A snv
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs104895128
rs104895128
MEFV
0.882 0.160 16 3243593 missense variant C/A;T snv 3.7E-05
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs104895154
rs104895154
MEFV
1.000 0.040 16 3243149 missense variant G/T snv 3.2E-05 1.4E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 0
dbSNP: rs1057519328
rs1057519328
MEFV
1.000 0.200 16 3249592 missense variant G/C snv 2.1E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs61732874
rs61732874
MEFV
0.925 0.040 16 3243257 missense variant C/A;T snv 1.8E-03; 1.2E-05
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0