rs1555601863, UNC13D

N. diseases: 5
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.
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
20 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
Histiocytosis haematophagic
CUI: C0876991
Disease: Histiocytosis haematophagic
2 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
Reduced natural killer cell activity
2 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
Unexplained fevers
CUI: C1844662
Disease: Unexplained fevers
4 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0