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: rs1057516260
rs1057516260
NPC1
1.000 0.160 18 23561362 frameshift variant G/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057516462
rs1057516462
NPC1
1.000 0.160 18 23568891 frameshift variant G/- delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2001 2001
dbSNP: rs1057516603
rs1057516603
NPC1
1.000 0.160 18 23539831 frameshift variant G/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057516647
rs1057516647
NPC1
1.000 0.160 18 23535523 frameshift variant TCCAAAC/- delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
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: rs1057516813
rs1057516813
NPC1
1.000 0.160 18 23554985 splice acceptor variant C/G;T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057516950
rs1057516950
NPC1
1.000 0.160 18 23556535 frameshift variant AA/- delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057517005
rs1057517005
NPC1
1.000 0.160 18 23586343 start lost T/C snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
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: rs1057517149
rs1057517149
NPC1
1.000 0.160 18 23535621 frameshift variant T/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057517186
rs1057517186
NPC1
1.000 0.160 18 23568889 frameshift variant C/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057517194
rs1057517194
NPC1
1.000 0.160 18 23535636 frameshift variant -/A delins 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057517197
rs1057517197
NPC1
1.000 0.160 18 23545146 frameshift variant A/- delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057517455
rs1057517455
NPC1
1.000 0.160 18 23548052 frameshift variant A/- del
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057518711
rs1057518711
NPC1
1.000 0.160 18 23560273 frameshift variant A/- delins
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 1.000 1 2017 2017
dbSNP: rs1057518942
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
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: 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: rs113371321
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs120074130
rs120074130
NPC1
0.925 0.160 18 23539941 missense variant C/T snv
CUI: C4017105
Disease: NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM 		0.700 0
dbSNP: rs120074131
rs120074131
NPC1
0.925 0.160 18 23533470 missense variant C/G;T snv 8.0E-06
CUI: C4017106
Disease: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM 		0.700 0
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: rs120074135
rs120074135
NPC1
1.000 0.160 18 23539418 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.800 1.000 5 1997 2016