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
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
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: 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: 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: 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: rs28940897
rs28940897
1.000 0.160 18 23539823 missense variant T/G snv
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2016
dbSNP: rs28942104
rs28942104
0.925 0.160 18 23536811 missense variant G/A snv 2.8E-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: rs28942105
rs28942105
1.000 0.160 18 23535479 missense variant T/A;C snv 2.0E-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: rs28942107
rs28942107
1.000 0.160 18 23536814 missense variant G/A 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: rs28942108
rs28942108
0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2016
dbSNP: rs369098773
rs369098773
1.000 0.160 18 23534471 missense variant T/C snv 2.0E-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: rs369368181
rs369368181
0.925 0.160 18 23551653 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: rs372445155
rs372445155
0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2016
dbSNP: rs372947142
rs372947142
1.000 0.160 18 23568876 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2016
dbSNP: rs483352886
rs483352886
1.000 0.160 18 23554758 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: rs550562774
rs550562774
1.000 0.160 18 23541108 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 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: rs768999208
rs768999208
1.000 0.160 18 23539878 missense variant C/T snv 8.0E-06
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.800 1.000 20 1997 2018
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: 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