rs372030650, 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 23539985 missense variant T/A snv 4.8E-05 1.1E-04 0.800 1.000 9 2001 2016
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.925 0.160 18 23539985 missense variant T/A snv 4.8E-05 1.1E-04 0.700 1.000 2 2001 2013