rs104894500, RAB27A

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.
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
11 0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06 0.700 0
Hemophagocytic Syndrome
CUI: C3887558
Disease: Hemophagocytic Syndrome
3 0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
Lymphohistiocytosis, Hemophagocytic
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
13 0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007