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: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.080 1.000 8 2007 2019
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 1.000 1 2017 2017
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 1.000 1 2017 2017
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		0.010 1.000 1 2016 2016
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 1.000 1 2019 2019
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0006309
Disease: Brucellosis
Brucellosis 		0.010 1.000 1 2012 2012
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2009 2009
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.010 1.000 1 2016 2016
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 1.000 1 2012 2012
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2016 2016
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 1.000 1 2014 2014
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.010 1.000 1 2012 2012
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.010 1.000 1 2016 2016