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: 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
dbSNP: rs753419933
rs753419933
NPC1
1 1.000 0.160 18 23533475 missense variant C/A snv 1.6E-05 0.700 1.000 3 2005 2014
dbSNP: rs765729815
rs765729815
NPC1
1 1.000 0.160 18 23535495 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2010 2016
dbSNP: rs777286835
rs777286835
NPC1
1 1.000 0.160 18 23543487 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 3 2003 2014
dbSNP: rs781261962
rs781261962
NPC1
1 1.000 0.160 18 23536862 missense variant T/C snv 8.0E-06 0.700 1.000 3 2009 2016
dbSNP: rs786200877
rs786200877
NPC1
1 1.000 0.160 18 23534445 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 2001 2013
dbSNP: rs786204455
rs786204455
NPC1
1 1.000 0.160 18 23536743 stop gained G/A snv 0.700 1.000 3 2005 2009
dbSNP: rs886042270
rs886042270
NPC1
1 1.000 0.160 18 23544987 frameshift variant C/- delins 0.700 1.000 3 2017 2018
dbSNP: rs1555631642
rs1555631642
NPC1
1 1.000 0.160 18 23533496 frameshift variant TA/C delins 0.700 1.000 2 2003 2012
dbSNP: rs1555635957
rs1555635957
NPC1
1 1.000 0.160 18 23551653 frameshift variant G/- delins 0.700 1.000 2 2001 2003
dbSNP: rs749012588
rs749012588
NPC1
1 1.000 0.160 18 23568834 frameshift variant CT/- delins 4.0E-06 0.700 1.000 2 2001 2010
dbSNP: rs758231839
rs758231839
NPC1
1 1.000 0.160 18 23534475 frameshift variant C/- delins 4.0E-06 0.700 1.000 2 2009 2017
dbSNP: rs759826138
rs759826138
NPC1
1 1.000 0.160 18 23539394 stop gained G/A snv 4.0E-06 0.700 1.000 2 2001 2013
dbSNP: rs761910746
rs761910746
NPC1
1 1.000 0.160 18 23539357 frameshift variant -/AA delins 4.0E-06; 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs762124334
rs762124334
NPC1
1 1.000 0.160 18 23560260 frameshift variant A/-;AA delins 0.700 1.000 2 2009 2012
dbSNP: rs774943545
rs774943545
NPC1
2 0.925 0.160 18 23533364 frameshift variant GAGT/- delins 3.2E-05 2.1E-05 0.700 1.000 2 1999 2010
dbSNP: rs786204512
rs786204512
NPC1
1 1.000 0.160 18 23539845 stop gained G/A snv 0.700 1.000 2 2001 2009
dbSNP: rs797044431
rs797044431
NPC1
2 0.925 0.160 18 23536878 splice acceptor variant T/- del 0.700 1.000 2 1999 2000
dbSNP: rs917070773
rs917070773
NPC1
1 1.000 0.160 18 23539893 stop gained G/A snv 0.700 1.000 2 2009 2013
dbSNP: rs1057516462
rs1057516462
NPC1
1 1.000 0.160 18 23568891 frameshift variant G/- delins 0.700 1.000 1 2001 2001
dbSNP: rs1057517077
rs1057517077
NPC1
1 1.000 0.160 18 23554972 stop gained G/A snv 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1057518711
rs1057518711
NPC1
1 1.000 0.160 18 23560273 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555632182
rs1555632182
NPC1
1 1.000 0.160 18 23535485 stop gained A/T snv 0.700 1.000 1 2006 2006