Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113371321
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 20 1997 2016
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.710 1.000 3 1999 2019
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C1843921
Disease: Postural instability
Postural instability 		0.700 0
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		0.700 0
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs80358257
rs80358257
NPC1
0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04
CUI: C0007384
Disease: Cataplexy
Cataplexy 		0.700 0
dbSNP: rs80358259
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.830 1.000 10 1997 2017
dbSNP: rs80358259
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1997 2012
dbSNP: rs80358259
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 7 1997 2012
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 3 1997 2016
dbSNP: rs80358259
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.740 1.000 2 1999 2019
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C1843921
Disease: Postural instability
Postural instability 		0.700 0
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		0.700 0
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0007384
Disease: Cataplexy
Cataplexy 		0.700 0
dbSNP: rs372445155
rs372445155
NPC1
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0
dbSNP: rs80358254
rs80358254
NPC1
0.882 0.160 18 23538609 missense variant C/A;G;T snv 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 17 1997 2016
dbSNP: rs28942108
rs28942108
NPC1
0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 10 1997 2016
dbSNP: rs80358254
rs80358254
NPC1
0.882 0.160 18 23538609 missense variant C/A;G;T snv 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.720 1.000 5 2001 2019
dbSNP: rs80358254
rs80358254
NPC1
0.882 0.160 18 23538609 missense variant C/A;G;T snv 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D 		0.700 0
dbSNP: rs139751448
rs139751448
NPC1
0.925 0.160 18 23556358 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 9 1997 2016