Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.830 1.000 27 1997 2017
dbSNP: rs80358257
rs80358257
NPC1
8 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.800 1.000 31 1997 2016
dbSNP: rs80358254
rs80358254
NPC1
3 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 0.800 1.000 30 1997 2016
dbSNP: rs28942108
rs28942108
NPC1
3 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.800 1.000 28 1997 2016
dbSNP: rs372947142
rs372947142
NPC1
1 1.000 0.160 18 23568876 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 26 1997 2016
dbSNP: rs768999208
rs768999208
NPC1
1 1.000 0.160 18 23539878 missense variant C/T snv 8.0E-06 0.800 1.000 26 1997 2018
dbSNP: rs139751448
rs139751448
NPC1
2 0.925 0.160 18 23556358 missense variant C/T snv 3.6E-05 7.0E-06 0.800 1.000 25 1997 2016
dbSNP: rs28942104
rs28942104
NPC1
2 0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 25 1997 2016
dbSNP: rs757475924
rs757475924
NPC1
1 1.000 0.160 18 23543499 missense variant C/A snv 8.4E-05 1.4E-04 0.800 1.000 25 1997 2016
dbSNP: rs786204714
rs786204714
NPC1
1 1.000 0.160 18 23539465 missense variant C/A;T snv 4.0E-06 0.800 1.000 25 1988 2016
dbSNP: rs120074135
rs120074135
NPC1
1 1.000 0.160 18 23539418 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 24 1997 2016
dbSNP: rs28942105
rs28942105
NPC1
1 1.000 0.160 18 23535479 missense variant T/A;C snv 2.0E-05 1.4E-05 0.800 1.000 24 1997 2016
dbSNP: rs369098773
rs369098773
NPC1
1 1.000 0.160 18 23534471 missense variant T/C snv 2.0E-05 7.0E-06 0.800 1.000 24 1997 2016
dbSNP: rs369368181
rs369368181
NPC1
2 0.925 0.160 18 23551653 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 24 1997 2016
dbSNP: rs483352886
rs483352886
NPC1
1 1.000 0.160 18 23554758 missense variant C/T snv 0.800 1.000 24 1997 2016
dbSNP: rs143124972
rs143124972
NPC1
2 0.925 0.160 18 23539447 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 23 1997 2016
dbSNP: rs1555631998
rs1555631998
NPC1
1 1.000 0.160 18 23534534 missense variant C/T snv 0.800 1.000 23 1997 2016
dbSNP: rs1555634422
rs1555634422
NPC1
1 1.000 0.160 18 23544402 missense variant G/A snv 0.800 1.000 23 1997 2017
dbSNP: rs778878523
rs778878523
NPC1
1 1.000 0.160 18 23535521 missense variant A/G snv 4.0E-06 0.800 1.000 23 1997 2016
dbSNP: rs550562774
rs550562774
NPC1
1 1.000 0.160 18 23541108 missense variant T/C snv 1.2E-05 2.8E-05 0.800 1.000 22 1997 2016
dbSNP: rs80358252
rs80358252
NPC1
4 0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 0.800 1.000 22 1997 2016
dbSNP: rs150334966
rs150334966
NPC1
1 1.000 0.160 18 23538572 missense variant G/A snv 6.8E-04 6.4E-04 0.800 1.000 21 1997 2018
dbSNP: rs28942107
rs28942107
NPC1
1 1.000 0.160 18 23536814 missense variant G/A snv 8.0E-06 0.800 1.000 21 1997 2016
dbSNP: rs372445155
rs372445155
NPC1
7 0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 21 1997 2016
dbSNP: rs120074132
rs120074132
NPC1
1 1.000 0.160 18 23539393 missense variant C/T snv 1.6E-05 0.800 1.000 20 1997 2016