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: 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: 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: 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: 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: 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: 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: rs1057518942
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs113371321
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		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: 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: 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: 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: rs80358252
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: rs80358252
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1997 2012
dbSNP: rs139751448
rs139751448
NPC1
0.925 0.160 18 23556358 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 6 2001 2016
dbSNP: rs28942104
rs28942104
NPC1
0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 5 1997 2016
dbSNP: rs369368181
rs369368181
NPC1
0.925 0.160 18 23551653 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 5 2003 2013
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: rs756815030
rs756815030
NPC1
0.925 0.160 18 23538610 frameshift variant CT/- del 7.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 4 1999 2016
dbSNP: rs377130051
rs377130051
NPC1
1.000 0.160 18 23545088 stop gained G/A;T snv 2.0E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 3 2002 2012
dbSNP: rs758902805
rs758902805
NPC1
0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 3 2000 2014
dbSNP: rs759075595
rs759075595
NPC1
0.925 0.160 18 23568933 frameshift variant CT/- delins 8.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 3 1999 2013
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