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: rs1057518942
rs1057518942
1.000 0.160 18 23544424 missense variant G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs1160114136
rs1160114136
1.000 0.160 18 23540458 stop gained G/A;T 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: rs139751448
rs139751448
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: rs140211089
rs140211089
1.000 0.160 18 23536871 missense variant T/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: rs1428599096
rs1428599096
1.000 0.160 18 23539433 missense variant C/T snv 8.0E-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: rs143124972
rs143124972
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
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
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
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: rs1555633697
rs1555633697
1.000 0.160 18 23541314 missense variant G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016
dbSNP: rs1555634202
rs1555634202
1.000 0.160 18 23543476 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: rs1555634422
rs1555634422
1.000 0.160 18 23544402 missense variant G/A snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2017
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: rs1555634490
rs1555634490
1.000 0.160 18 23544496 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: rs1555634739
rs1555634739
1.000 0.160 18 23545071 missense variant T/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.700 1.000 20 1997 2016