rs768849283, PRF1

N. diseases: 7
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.
Decreased liver function
CUI: C0232744
Disease: Decreased liver function
5 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
25 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
Hypofibrinogenemia
CUI: C0553681
Disease: Hypofibrinogenemia
14 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
Increased serum ferritin
CUI: C0241013
Disease: Increased serum ferritin
1 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
6 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0