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: 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: 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: 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: rs483352886
rs483352886
NPC1
1 1.000 0.160 18 23554758 missense variant C/T snv 0.800 1.000 24 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: 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: 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: 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
dbSNP: rs120074134
rs120074134
NPC1
1 1.000 0.160 18 23556436 missense variant A/G snv 8.0E-06 0.800 1.000 20 1997 2016
dbSNP: rs120074136
rs120074136
NPC1
1 1.000 0.160 18 23568949 missense variant A/G snv 0.800 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: 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