rs80358261, NPC2

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.
NIEMANN-PICK DISEASE, TYPE C2
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
22 0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 0.800 1.000 7 2000 2008
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 0.700 0
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 0.010 1.000 1 2005 2005