rs879253740, NPC2;ISCA2

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.
Bone-marrow foam cells
CUI: C1856560
Disease: Bone-marrow foam cells
2 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
NIEMANN-PICK DISEASE, TYPE C2
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
22 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
Pulmonary Alveolar Proteinosis
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
7 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0