rs28942108, NPC1

N. diseases: 3
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 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.800 1.000 28 1997 2016
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004