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: 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: 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: rs777286835
rs777286835
NPC1
1.000 0.160 18 23543487 stop gained G/A;T snv 4.0E-06; 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 3 2003 2014
dbSNP: rs786204455
rs786204455
NPC1
1.000 0.160 18 23536743 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 3 2005 2009
dbSNP: rs759826138
rs759826138
NPC1
1.000 0.160 18 23539394 stop gained G/A snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 2 2001 2013
dbSNP: rs786204512
rs786204512
NPC1
1.000 0.160 18 23539845 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 2 2001 2009
dbSNP: rs917070773
rs917070773
NPC1
1.000 0.160 18 23539893 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 2 2009 2013
dbSNP: rs1057517077
rs1057517077
NPC1
1.000 0.160 18 23554972 stop gained G/A snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2009 2009
dbSNP: rs1555632182
rs1555632182
NPC1
1.000 0.160 18 23535485 stop gained A/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2006 2006
dbSNP: rs750095738
rs750095738
NPC1
1.000 0.160 18 23536689 stop gained G/A;C snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2017 2017
dbSNP: rs780592540
rs780592540
NPC1
0.925 0.160 18 23539936 stop gained G/A;C snv 4.0E-06; 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2001 2001
dbSNP: rs780592540
rs780592540
NPC1
0.925 0.160 18 23539936 stop gained G/A;C snv 4.0E-06; 8.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 1 2001 2001
dbSNP: rs786204586
rs786204586
NPC1
1.000 0.160 18 23539373 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2003 2003
dbSNP: rs786204641
rs786204641
NPC1
1.000 0.160 18 23539842 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2002 2002
dbSNP: rs794727897
rs794727897
NPC1
1.000 0.160 18 23556427 stop gained C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2007 2007
dbSNP: rs1057516749
rs1057516749
NPC1
1.000 0.160 18 23568853 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1064795718
rs1064795718
NPC1
1.000 0.160 18 23560391 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1555633361
rs1555633361
NPC1
1.000 0.160 18 23539981 stop gained A/C snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1555637139
rs1555637139
NPC1
1.000 0.160 18 23556398 stop gained C/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs483352884
rs483352884
NPC1
1.000 0.160 18 23539810 stop gained -/T delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs483352889
rs483352889
NPC1
1.000 0.160 18 23544346 stop gained G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs751249367
rs751249367
NPC1
1.000 0.160 18 23568980 stop gained A/C;G snv 1.6E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs752409181
rs752409181
NPC1
1.000 0.160 18 23561491 stop gained G/A;C snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		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: 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