rs28942104, 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 0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 25 1997 2016
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 5 1997 2016