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: rs1429934
rs1429934
NPC1
1 1.000 0.160 18 23582324 intron variant C/T snv 0.70 0.010 1.000 1 2010 2010
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 1.000 20 1997 2016
dbSNP: rs1160114136
rs1160114136
NPC1
1 1.000 0.160 18 23540458 stop gained G/A;T snv 4.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs120074130
rs120074130
NPC1
2 0.925 0.160 18 23539941 missense variant C/T snv 0.700 1.000 20 1997 2016
dbSNP: rs120074131
rs120074131
NPC1
2 0.925 0.160 18 23533470 missense variant C/G;T snv 8.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs1230538609
rs1230538609
NPC1
1 1.000 0.160 18 23560369 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs1364834942
rs1364834942
NPC1
1 1.000 0.160 18 23538627 missense variant C/T snv 1.2E-05 0.700 1.000 20 1997 2016
dbSNP: rs138184115
rs138184115
NPC1
1 1.000 0.160 18 23551720 missense variant C/A;T snv 1.7E-04; 1.2E-05 0.700 1.000 20 1997 2016
dbSNP: rs1393388896
rs1393388896
NPC1
1 1.000 0.160 18 23543529 missense variant A/G snv 4.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs140211089
rs140211089
NPC1
1 1.000 0.160 18 23536871 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs1428599096
rs1428599096
NPC1
1 1.000 0.160 18 23539433 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs1555632958
rs1555632958
NPC1
1 1.000 0.160 18 23538596 missense variant A/C snv 0.700 1.000 20 1997 2016
dbSNP: rs1555633697
rs1555633697
NPC1
1 1.000 0.160 18 23541314 missense variant G/A snv 0.700 1.000 20 1997 2016
dbSNP: rs1555634202
rs1555634202
NPC1
1 1.000 0.160 18 23543476 missense variant C/T snv 0.700 1.000 20 1997 2016
dbSNP: rs1555634452
rs1555634452
NPC1
1 1.000 0.160 18 23544456 missense variant C/A snv 0.700 1.000 20 1997 2016
dbSNP: rs1555634490
rs1555634490
NPC1
1 1.000 0.160 18 23544496 missense variant C/T snv 0.700 1.000 20 1997 2016
dbSNP: rs1555634739
rs1555634739
NPC1
1 1.000 0.160 18 23545071 missense variant T/G snv 0.700 1.000 20 1997 2016
dbSNP: rs1555636659
rs1555636659
NPC1
1 1.000 0.160 18 23554875 missense variant C/T snv 0.700 1.000 20 1997 2016
dbSNP: rs1555637157
rs1555637157
NPC1
1 1.000 0.160 18 23556407 missense variant C/G snv 0.700 1.000 20 1997 2016
dbSNP: rs28942106
rs28942106
NPC1
2 0.925 0.160 18 23535683 missense variant T/C snv 0.700 1.000 20 1997 2016
dbSNP: rs34084984
rs34084984
NPC1
1 1.000 0.160 18 23539384 missense variant T/C snv 8.5E-04 3.5E-03 0.700 1.000 20 1997 2016
dbSNP: rs34715591
rs34715591
NPC1
1 1.000 0.160 18 23535496 missense variant G/A;T snv 1.0E-03; 4.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs370323921
rs370323921
NPC1
1 1.000 0.160 18 23544391 missense variant G/C snv 1.4E-05 0.700 1.000 20 1997 2016
dbSNP: rs55680026
rs55680026
NPC1
1 1.000 0.160 18 23560447 missense variant T/C snv 3.4E-03 3.3E-03 0.700 1.000 20 1997 2016
dbSNP: rs745777805
rs745777805
NPC1
1 1.000 0.160 18 23545064 missense variant G/A;T snv 5.2E-05; 4.0E-06 0.700 1.000 20 1997 2016