rs28934897, MVK

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
33 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.800 1.000 19 1999 2016
Mevalonic Aciduria
CUI: C1959626
Disease: Mevalonic Aciduria
29 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.700 1.000 12 1999 2016
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
CUI: C1867981
Disease: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
16 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.700 1.000 5 1999 2016
Abnormality of immune system physiology
CUI: C4023616
Disease: Abnormality of immune system physiology
1 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.700 0
Fever
CUI: C0015967
Disease: Fever
66 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.020 1.000 2 2015 2016
Periodic Fever Syndrome
CUI: C3889979
Disease: Periodic Fever Syndrome
6 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.020 1.000 2 2001 2014
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2007 2007
Deficiency of mevalonate kinase
CUI: C0342731
Disease: Deficiency of mevalonate kinase
23 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2007 2007
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2016 2016