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: rs1555632958
rs1555632958
1.000 0.160 18 23538596 missense variant A/C snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs766178353
rs766178353
1.000 0.160 18 23533472 missense variant A/C snv 4.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs120074134
rs120074134
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: rs120074136
rs120074136
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: rs1393388896
rs1393388896
1.000 0.160 18 23543529 missense variant A/G snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs778878523
rs778878523
1.000 0.160 18 23535521 missense variant A/G snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2016
dbSNP: rs80358259
rs80358259
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: rs747049347
rs747049347
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: rs1555634452
rs1555634452
1.000 0.160 18 23544456 missense variant C/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs757475924
rs757475924
1.000 0.160 18 23543499 missense variant C/A snv 8.4E-05 1.4E-04
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2016
dbSNP: rs761773567
rs761773567
1.000 0.160 18 23536874 missense variant C/A snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs1057519242
rs1057519242
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: rs80358254
rs80358254
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 20 1997 2016
dbSNP: rs1230538609
rs1230538609
1.000 0.160 18 23560369 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs138184115
rs138184115
1.000 0.160 18 23551720 missense variant C/A;T snv 1.7E-04; 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs750480579
rs750480579
1.000 0.160 18 23544477 missense variant C/A;T snv 1.6E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs786204714
rs786204714
1.000 0.160 18 23539465 missense variant C/A;T snv 4.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1988 2016
dbSNP: rs773351341
rs773351341
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: rs1555637157
rs1555637157
1.000 0.160 18 23556407 missense variant C/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs757534240
rs757534240
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: rs120074131
rs120074131
0.925 0.160 18 23533470 missense variant C/G;T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs120074130
rs120074130
0.925 0.160 18 23539941 missense variant C/T snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs120074132
rs120074132
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: rs120074135
rs120074135
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: rs1364834942
rs1364834942
1.000 0.160 18 23538627 missense variant C/T snv 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016