rs80358257, NPC1

N. diseases: 8
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 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.800 1.000 31 1997 2016
Niemann-Pick Disease, Type C
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
33 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.710 1.000 4 1999 2019
Apraxia of Phonation
CUI: C0264611
Disease: Apraxia of Phonation
9 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
Cataplexy
CUI: C0007384
Disease: Cataplexy
5 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
Postural instability
CUI: C1843921
Disease: Postural instability
5 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0