rs113371321, 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.
Dystonia
CUI: C0013421
Disease: Dystonia
97 18 23534477 missense variant G/A;C snv 1.2E-04 0.700 0