rs104895321, MVK

N. diseases: 4
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.
Periodic Fever Syndrome
CUI: C3889979
Disease: Periodic Fever Syndrome
6 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.020 1.000 2 2014 2015
Deficiency of mevalonate kinase
CUI: C0342731
Disease: Deficiency of mevalonate kinase
23 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
33 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014