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: 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: 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: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 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: rs120074136
rs120074136
NPC1
1 1.000 0.160 18 23568949 missense variant A/G snv 0.800 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: rs28940897
rs28940897
NPC1
1 1.000 0.160 18 23539823 missense variant T/G snv 0.800 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: 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: rs866966704
rs866966704
NPC1
1 1.000 0.160 18 23561495 missense variant G/A snv 0.700 1.000 20 1997 2016
dbSNP: rs756815030
rs756815030
NPC1
2 0.925 0.160 18 23538610 frameshift variant CT/- del 7.0E-06 0.700 1.000 8 1999 2015
dbSNP: rs1055204017
rs1055204017
NPC1
1 1.000 0.160 18 23552736 intron variant C/G;T snv 0.700 1.000 7 2009 2017
dbSNP: rs1064794009
rs1064794009
NPC1
1 1.000 0.160 18 23533374 frameshift variant AG/- del 0.700 1.000 5 1999 2014
dbSNP: rs1555637232
rs1555637232
NPC1
1 1.000 0.160 18 23556499 missense variant G/A snv 0.700 1.000 4 2002 2016
dbSNP: rs746715353
rs746715353
NPC1
1 1.000 0.160 18 23535687 missense variant A/G snv 1.4E-05 0.700 1.000 4 2003 2015
dbSNP: rs1555631571
rs1555631571
NPC1
1 1.000 0.160 18 23533354 splice donor variant C/A;G;T snv 0.700 1.000 3 1999 2016