Source: UNIPROT

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: 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 0 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 0 2000 2016
dbSNP: rs1053321823
rs1053321823
NPC1
1.000 0.160 18 23556404 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1057519242
rs1057519242
NPC1
1.000 0.160 18 23540506 missense variant C/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1064793791
rs1064793791
NPC1
1.000 0.160 18 23556271 missense variant G/A;C snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1191346899
rs1191346899
NPC1
1.000 0.160 18 23539944 missense variant G/A snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1298238512
rs1298238512
NPC1
1.000 0.160 18 23556359 missense variant G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs1346436537
rs1346436537
NPC1
1.000 0.160 18 23556455 missense variant G/A snv 1.6E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs564631426
rs564631426
NPC1
1.000 0.160 18 23539830 missense variant C/T snv 4.0E-06; 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs747049347
rs747049347
NPC1
1.000 0.160 18 23572174 missense variant A/G snv 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs748837410
rs748837410
NPC1
1.000 0.160 18 23539436 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs757534240
rs757534240
NPC1
1.000 0.160 18 23538608 missense variant C/G snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs771000314
rs771000314
NPC1
1.000 0.160 18 23536742 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs772622214
rs772622214
NPC1
1.000 0.160 18 23536721 missense variant G/T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs773351341
rs773351341
NPC1
1.000 0.160 18 23545063 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 0
dbSNP: rs780175800
rs780175800
NPC1
1.000 0.160 18 23534516 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.700 0
dbSNP: rs80358259
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.830 1.000 20 1997 2017
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 20 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 20 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 20 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 20 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 20 1997 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 20 1997 2016
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 20 1997 2018
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 20 1997 2016