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: 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: 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: 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: 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: 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: 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: 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: 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