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: rs398123284
rs398123284
NPC1
1 1.000 0.160 18 23543503 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1057517194
rs1057517194
NPC1
1 1.000 0.160 18 23535636 frameshift variant -/A delins 7.0E-06 0.700 0
dbSNP: rs1555642296
rs1555642296
NPC1
1 1.000 0.160 18 23573487 frameshift variant -/A ins 0.700 0
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: rs863224902
rs863224902
NPC1
1 1.000 0.160 18 23536680 frameshift variant -/AATA delins 0.700 0
dbSNP: rs1555633326
rs1555633326
NPC1
1 1.000 0.160 18 23539922 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs483352881
rs483352881
NPC1
1 1.000 0.160 18 23541376 frameshift variant -/C delins 0.700 0
dbSNP: rs483352880
rs483352880
NPC1
1 1.000 0.160 18 23568869 frameshift variant -/G delins 0.700 0
dbSNP: rs1555641027
rs1555641027
NPC1
1 1.000 0.160 18 23568850 frameshift variant -/GTAACTCTTTCACATTTGTTTT delins 0.700 0
dbSNP: rs1555631982
rs1555631982
NPC1
1 1.000 0.160 18 23534519 frameshift variant -/T delins 0.700 0
dbSNP: rs483352884
rs483352884
NPC1
1 1.000 0.160 18 23539810 stop gained -/T delins 0.700 0
dbSNP: rs773941375
rs773941375
NPC1
1 1.000 0.160 18 23568861 frameshift variant -/TC delins 4.0E-06 2.1E-05 0.700 1.000 1 2003 2003
dbSNP: rs886044580
rs886044580
NPC1
1 1.000 0.160 18 23556594 frameshift variant -/TC delins 0.700 1.000 1 2003 2003
dbSNP: rs1057518711
rs1057518711
NPC1
1 1.000 0.160 18 23560273 frameshift variant A/- delins 0.700 1.000 1 2017 2017
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: rs483352883
rs483352883
NPC1
1 1.000 0.160 18 23556539 frameshift variant A/- del 0.700 0
dbSNP: rs786200878
rs786200878
NPC1
1 1.000 0.160 18 23533447 frameshift variant A/- delins 0.700 0
dbSNP: rs762124334
rs762124334
NPC1
1 1.000 0.160 18 23560260 frameshift variant A/-;AA delins 0.700 1.000 2 2009 2012
dbSNP: rs1555632958
rs1555632958
NPC1
1 1.000 0.160 18 23538596 missense variant A/C snv 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: rs1555633361
rs1555633361
NPC1
1 1.000 0.160 18 23539981 stop gained A/C snv 0.700 0
dbSNP: rs751249367
rs751249367
NPC1
1 1.000 0.160 18 23568980 stop gained A/C;G snv 1.6E-05 0.700 0
dbSNP: rs764472245
rs764472245
NPC1
1 1.000 0.160 18 23544958 splice donor variant A/C;T snv 0.700 1.000 1 2003 2003
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.830 1.000 27 1997 2017