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: 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: 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
dbSNP: rs372030650
rs372030650
NPC1
0.925 0.160 18 23539985 missense variant T/A snv 4.8E-05 1.1E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 9 2001 2016
dbSNP: rs543206298
rs543206298
NPC1
1.000 0.160 18 23539405 missense variant G/A snv 7.6E-05 9.8E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 9 2000 2016
dbSNP: rs786204714
rs786204714
NPC1
1.000 0.160 18 23539465 missense variant C/A;T snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 9 1988 2016
dbSNP: rs28942104
rs28942104
NPC1
0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 8 1997 2016
dbSNP: rs372947142
rs372947142
NPC1
1.000 0.160 18 23568876 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 8 1997 2016
dbSNP: rs377515417
rs377515417
NPC1
1.000 0.160 18 23554759 missense variant G/A snv 3.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 8 2001 2016
dbSNP: rs756815030
rs756815030
NPC1
0.925 0.160 18 23538610 frameshift variant CT/- del 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 8 1999 2015
dbSNP: rs758902805
rs758902805
NPC1
0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 8 2000 2014
dbSNP: rs1055204017
rs1055204017
NPC1
1.000 0.160 18 23552736 intron variant C/G;T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 7 2009 2017
dbSNP: rs483352886
rs483352886
NPC1
1.000 0.160 18 23554758 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 7 1997 2016
dbSNP: rs768999208
rs768999208
NPC1
1.000 0.160 18 23539878 missense variant C/T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 7 1997 2018
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: 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: 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: rs143124972
rs143124972
NPC1
0.925 0.160 18 23539447 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs1555631998
rs1555631998
NPC1
1.000 0.160 18 23534534 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs28942105
rs28942105
NPC1
1.000 0.160 18 23535479 missense variant T/A;C snv 2.0E-05 1.4E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs369368181
rs369368181
NPC1
0.925 0.160 18 23551653 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs748862167
rs748862167
NPC1
1.000 0.160 18 23534544 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 6 2001 2015
dbSNP: rs753768576
rs753768576
NPC1
0.925 0.160 18 23539826 missense variant G/A snv 2.4E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 6 2002 2016
dbSNP: rs757475924
rs757475924
NPC1
1.000 0.160 18 23543499 missense variant C/A snv 8.4E-05 1.4E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 6 1997 2016
dbSNP: rs1064794009
rs1064794009
NPC1
1.000 0.160 18 23533374 frameshift variant AG/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 5 1999 2014