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: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 1967 2017
dbSNP: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1967 2017
dbSNP: rs61752717
rs61752717
MEFV
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: rs28940580
rs28940580
MEFV
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: rs28940578
rs28940578
MEFV
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
MEFV
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: rs780770024
rs780770024
MEFV
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: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 0.931 29 1998 2018
dbSNP: rs61732874
rs61732874
MEFV
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: rs104895097
rs104895097
MEFV
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: rs104895094
rs104895094
MEFV
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: rs104895091
rs104895091
MEFV
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: rs104895083
rs104895083
MEFV
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: rs104895093
rs104895093
MEFV
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: 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: 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: rs3743930
rs3743930
MEFV
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