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: rs745892286
rs745892286
NPC1
1 1.000 0.160 18 23533391 missense variant C/T snv 4.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs750480579
rs750480579
NPC1
1 1.000 0.160 18 23544477 missense variant C/A;T snv 1.6E-05 0.700 1.000 20 1997 2016
dbSNP: rs752386083
rs752386083
NPC1
1 1.000 0.160 18 23543466 missense variant G/T snv 8.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs758829443
rs758829443
NPC1
1 1.000 0.160 18 23535657 missense variant C/T snv 4.0E-06 2.1E-05 0.700 1.000 20 1997 2016
dbSNP: rs761653115
rs761653115
NPC1
1 1.000 0.160 18 23533402 missense variant C/T snv 1.2E-05 0.700 1.000 20 1997 2016
dbSNP: rs761660695
rs761660695
NPC1
1 1.000 0.160 18 23548036 missense variant T/C snv 1.2E-05 7.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs761773567
rs761773567
NPC1
1 1.000 0.160 18 23536874 missense variant C/A snv 4.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs765652543
rs765652543
NPC1
1 1.000 0.160 18 23544519 missense variant G/A;C snv 8.0E-06 1.4E-05 0.700 1.000 20 1997 2016
dbSNP: rs766178353
rs766178353
NPC1
1 1.000 0.160 18 23533472 missense variant A/C snv 4.0E-06 7.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs766301620
rs766301620
NPC1
1 1.000 0.160 18 23556368 missense variant G/A;T snv 8.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs781065429
rs781065429
NPC1
1 1.000 0.160 18 23554960 missense variant C/T snv 4.0E-05 2.1E-05 0.700 1.000 20 1997 2016
dbSNP: rs80358253
rs80358253
NPC1
2 0.925 0.160 18 23541355 missense variant T/G snv 8.0E-06 0.700 1.000 20 1997 2016
dbSNP: rs80358258
rs80358258
NPC1
2 0.925 0.160 18 23536758 missense variant C/T snv 8.0E-06 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: rs377515417
rs377515417
NPC1
1 1.000 0.160 18 23554759 missense variant G/A snv 3.2E-05 0.700 1.000 8 2001 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: rs758902805
rs758902805
NPC1
2 0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06 0.700 1.000 8 2000 2014
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: rs748862167
rs748862167
NPC1
1 1.000 0.160 18 23534544 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 6 2001 2015
dbSNP: rs753768576
rs753768576
NPC1
2 0.925 0.160 18 23539826 missense variant G/A snv 2.4E-05 0.700 1.000 6 2002 2016
dbSNP: rs1064794009
rs1064794009
NPC1
1 1.000 0.160 18 23533374 frameshift variant AG/- del 0.700 1.000 5 1999 2014
dbSNP: rs1261939149
rs1261939149
NPC1
1 1.000 0.160 18 23539424 missense variant C/T snv 4.0E-06 0.700 1.000 5 1999 2014
dbSNP: rs200444084
rs200444084
NPC1
1 1.000 0.160 18 23534480 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 5 2010 2014
dbSNP: rs376213990
rs376213990
NPC1
1 1.000 0.160 18 23544484 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.700 1.000 5 2003 2015
dbSNP: rs759075595
rs759075595
NPC1
2 0.925 0.160 18 23568933 frameshift variant CT/- delins 8.0E-06 0.700 1.000 5 1999 2014