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: rs1053321823
rs1053321823
NPC1
1 1.000 0.160 18 23556404 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
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: rs1057516260
rs1057516260
NPC1
1 1.000 0.160 18 23561362 frameshift variant G/- del 0.700 0
dbSNP: rs1057516462
rs1057516462
NPC1
1 1.000 0.160 18 23568891 frameshift variant G/- delins 0.700 1.000 1 2001 2001
dbSNP: rs1057516603
rs1057516603
NPC1
1 1.000 0.160 18 23539831 frameshift variant G/- del 0.700 0
dbSNP: rs1057516647
rs1057516647
NPC1
1 1.000 0.160 18 23535523 frameshift variant TCCAAAC/- delins 0.700 0
dbSNP: rs1057516749
rs1057516749
NPC1
1 1.000 0.160 18 23568853 stop gained G/A snv 0.700 0
dbSNP: rs1057516813
rs1057516813
NPC1
1 1.000 0.160 18 23554985 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1057516950
rs1057516950
NPC1
1 1.000 0.160 18 23556535 frameshift variant AA/- delins 0.700 0
dbSNP: rs1057517005
rs1057517005
NPC1
1 1.000 0.160 18 23586343 start lost T/C snv 0.700 0
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: rs1057517149
rs1057517149
NPC1
1 1.000 0.160 18 23535621 frameshift variant T/- del 0.700 0
dbSNP: rs1057517186
rs1057517186
NPC1
1 1.000 0.160 18 23568889 frameshift variant C/- del 0.700 0
dbSNP: rs1057517194
rs1057517194
NPC1
1 1.000 0.160 18 23535636 frameshift variant -/A delins 7.0E-06 0.700 0
dbSNP: rs1057517197
rs1057517197
NPC1
1 1.000 0.160 18 23545146 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517455
rs1057517455
NPC1
1 1.000 0.160 18 23548052 frameshift variant A/- del 0.700 0
dbSNP: rs1057518711
rs1057518711
NPC1
1 1.000 0.160 18 23560273 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 1.000 20 1997 2016
dbSNP: rs1057519242
rs1057519242
NPC1
1 1.000 0.160 18 23540506 missense variant C/A snv 0.700 0
dbSNP: rs1064793791
rs1064793791
NPC1
1 1.000 0.160 18 23556271 missense variant G/A;C snv 0.700 0
dbSNP: rs1064794009
rs1064794009
NPC1
1 1.000 0.160 18 23533374 frameshift variant AG/- del 0.700 1.000 5 1999 2014
dbSNP: rs1064795718
rs1064795718
NPC1
1 1.000 0.160 18 23560391 stop gained G/A snv 0.700 0
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: rs1191346899
rs1191346899
NPC1
1 1.000 0.160 18 23539944 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs120074130
rs120074130
NPC1
2 0.925 0.160 18 23539941 missense variant C/T snv 0.700 1.000 20 1997 2016