rs104895297, MVK

N. diseases: 3
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 0.882 0.360 12 109581427 missense variant C/T snv 0.700 1.000 5 1999 2005
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
Deficiency of mevalonate kinase
CUI: C0342731
Disease: Deficiency of mevalonate kinase
23 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007