rs878853320, GBA

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.
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06 0.700 0