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: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
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: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs751454741
rs751454741
MEFV
1.000 0.200 16 3254736 missense variant C/T snv 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs755659290
rs755659290
MEFV
1.000 0.200 16 3249480 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.700 0
dbSNP: rs876660990
rs876660990
MEFV
1.000 0.040 16 3254632 stop gained G/A;C snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 1999 1999
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.010 1.000 1 2000 2000
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0158026
Disease: Monoarthritis
Monoarthritis 		0.010 1.000 1 2001 2001
dbSNP: rs767006697
rs767006697
MEFV
0.925 0.080 16 3254658 frameshift variant C/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 < 0.001 1 2001 2001
dbSNP: rs767006697
rs767006697
MEFV
0.925 0.080 16 3254658 frameshift variant C/- delins
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 2001 2001
dbSNP: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 1.000 1 2002 2002
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 1.000 1 2002 2002
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0302356
Disease: incomplete anencephaly, hemicrania
incomplete anencephaly, hemicrania 		0.010 1.000 1 2002 2002
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0877781
Disease: Hemicrania
Hemicrania 		0.010 1.000 1 2002 2002
dbSNP: rs104895111
rs104895111
MEFV
0.925 0.160 16 3254317 stop gained C/A;G;T snv 4.0E-06
CUI: C1858361
Disease: Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 		0.010 1.000 1 2003 2003
dbSNP: rs104895111
rs104895111
MEFV
0.925 0.160 16 3254317 stop gained C/A;G;T snv 4.0E-06
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.010 1.000 1 2003 2003
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0268749
Disease: Fibrillary glomerulonephritis
Fibrillary glomerulonephritis 		0.010 1.000 1 2003 2003
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 1.000 1 2003 2003
dbSNP: rs28940580
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.010 1.000 1 2003 2003
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0751967
Disease: Multiple Sclerosis, Relapsing-Remitting
Multiple Sclerosis, Relapsing-Remitting 		0.010 1.000 1 2003 2003
dbSNP: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2000 2004
dbSNP: rs104895105
rs104895105
MEFV
0.851 0.120 16 3247171 missense variant G/A snv
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.010 1.000 1 2004 2004