rs28942107, 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 23536814 missense variant G/A snv 8.0E-06 0.800 1.000 21 1997 2016