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: 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: 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: 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: C0085574
Disease: Palindromic rheumatism
Palindromic rheumatism 		0.010 1.000 1 2018 2018
dbSNP: rs11466018
rs11466018
MEFV
0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.010 1.000 1 2018 2018
dbSNP: rs11466018
rs11466018
MEFV
0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03
CUI: C3889979
Disease: Periodic Fever Syndrome
Periodic Fever Syndrome 		0.010 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: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		0.010 1.000 1 2018 2018