rs80358252, NPC1

N. diseases: 4
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 23561461 missense variant C/T snv 1.4E-05 0.800 1.000 22 1997 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 0.700 1.000 7 1997 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 0.700 1.000 7 1997 2012
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 0.700 0