rs120074135, NPC1

N. diseases: 1
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 C1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
192 1.000 0.160 18 23539418 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 24 1997 2016