rs80358259, NPC1

N. diseases: 9
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 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.830 1.000 27 1997 2017
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.740 1.000 6 1999 2019
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.700 1.000 7 1997 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.700 1.000 7 1997 2012
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.020 1.000 2 2003 2011
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2003 2003
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2003 2003
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2003 2003
Maturation defect
CUI: C0334070
Disease: Maturation defect
2 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2013 2013