rs1057518942, NPC1

N. diseases: 2
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 23544424 missense variant G/A snv 0.700 1.000 20 1997 2016
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.160 18 23544424 missense variant G/A snv 0.700 0