Source: ALL

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: 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 6 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 7 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 4 1999 2019
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: rs80358260
rs80358260
NPC2 ; ISCA2
0.925 0.160 14 74493217 stop gained C/A;T snv 7.7E-05; 2.4E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 6 2000 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: 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: rs143124972
rs143124972
NPC1
0.925 0.160 18 23539447 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 2 2010 2016
dbSNP: rs372030650
rs372030650
NPC1
0.925 0.160 18 23539985 missense variant T/A snv 4.8E-05 1.1E-04
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 2 2001 2013
dbSNP: rs774943545
rs774943545
NPC1
0.925 0.160 18 23533364 frameshift variant GAGT/- delins 3.2E-05 2.1E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 1.000 2 1999 2010
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: rs11694
rs11694
NPC2
0.925 0.160 14 74484579 missense variant A/G snv
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358252
rs80358252
NPC1
0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358253
rs80358253
NPC1
0.925 0.160 18 23541355 missense variant T/G snv 8.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358258
rs80358258
NPC1
0.925 0.160 18 23536758 missense variant C/T snv 8.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358261
rs80358261
NPC2
0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358262
rs80358262
NPC2
0.925 0.160 14 74486386 stop gained G/A snv
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358263
rs80358263
NPC2
0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358264
rs80358264
NPC2
0.925 0.160 14 74484483 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358266
rs80358266
NPC2
0.925 0.160 14 74484426 stop gained C/A;T snv 8.0E-06; 6.4E-05
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0
dbSNP: rs80358267
rs80358267
NPC2 ; ISCA2
0.925 0.160 14 74493248 frameshift variant C/- del
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		0.700 0