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: rs150334966
rs150334966
NPC1
1.000 0.160 18 23538572 missense variant G/A snv 6.8E-04 6.4E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 2 1997 2018
dbSNP: rs120074132
rs120074132
NPC1
1.000 0.160 18 23539393 missense variant C/T snv 1.6E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 0 1997 2016
dbSNP: rs120074134
rs120074134
NPC1
1.000 0.160 18 23556436 missense variant A/G snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 0 1997 2016
dbSNP: rs120074136
rs120074136
NPC1
1.000 0.160 18 23568949 missense variant A/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 0 1997 2016
dbSNP: rs28940897
rs28940897
NPC1
1.000 0.160 18 23539823 missense variant T/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 0 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: 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1261939149
rs1261939149
NPC1
1.000 0.160 18 23539424 missense variant C/T snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 5 1999 2014
dbSNP: rs200444084
rs200444084
NPC1
1.000 0.160 18 23534480 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 5 2010 2014
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: rs376213990
rs376213990
NPC1
1.000 0.160 18 23544484 missense variant C/G;T snv 8.0E-06; 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 5 2003 2015