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: rs80358254
rs80358254
NPC1
3 0.882 0.160 18 23538609 missense variant C/A;G;T snv 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05 0.720 1.000 7 2001 2019
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
2 0.925 0.160 14 74493217 stop gained C/A;T snv 7.7E-05; 2.4E-05 0.700 1.000 6 2000 2014
dbSNP: rs377130051
rs377130051
NPC1
1 1.000 0.160 18 23545088 stop gained G/A;T snv 2.0E-05 0.700 1.000 3 2002 2012
dbSNP: rs758902805
rs758902805
NPC1
2 0.925 0.160 18 23533495 missense variant G/C;T snv 8.0E-06 0.700 1.000 3 2000 2014
dbSNP: rs759075595
rs759075595
NPC1
2 0.925 0.160 18 23568933 frameshift variant CT/- delins 8.0E-06 0.700 1.000 3 1999 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1474434210
rs1474434210
NPC1
1 1.000 0.160 18 23556527 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs28942108
rs28942108
NPC1
3 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs55724504
rs55724504
NPC1
2 0.925 0.280 18 23534476 synonymous variant C/A;T snv 2.6E-03; 1.3E-04 0.010 1.000 1 2005 2005
dbSNP: rs753768576
rs753768576
NPC1
2 0.925 0.160 18 23539826 missense variant G/A snv 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs780592540
rs780592540
NPC1
2 0.925 0.160 18 23539936 stop gained G/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 1 2001 2001
dbSNP: rs11694
rs11694
NPC2
2 0.925 0.160 14 74484579 missense variant A/G snv 0.700 0
dbSNP: rs80358253
rs80358253
NPC1
2 0.925 0.160 18 23541355 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs80358258
rs80358258
NPC1
2 0.925 0.160 18 23536758 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs80358262
rs80358262
NPC2
2 0.925 0.160 14 74486386 stop gained G/A snv 0.700 0
dbSNP: rs80358263
rs80358263
NPC2
7 0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06 0.700 0
dbSNP: rs80358266
rs80358266
NPC2
2 0.925 0.160 14 74484426 stop gained C/A;T snv 8.0E-06; 6.4E-05 0.700 0
dbSNP: rs80358267
rs80358267
NPC2 ; ISCA2
2 0.925 0.160 14 74493248 frameshift variant C/- del 0.700 0
dbSNP: rs143124972
rs143124972
NPC1
2 0.925 0.160 18 23539447 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 2 2010 2016
dbSNP: rs756815030
rs756815030
NPC1
2 0.925 0.160 18 23538610 frameshift variant CT/- del 7.0E-06 0.700 1.000 4 1999 2016
dbSNP: rs369368181
rs369368181
NPC1
2 0.925 0.160 18 23551653 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 5 2003 2013
dbSNP: rs80358264
rs80358264
NPC2
2 0.925 0.160 14 74484483 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs139751448
rs139751448
NPC1
2 0.925 0.160 18 23556358 missense variant C/T snv 3.6E-05 7.0E-06 0.700 1.000 6 2001 2016
dbSNP: rs80358252
rs80358252
NPC1
4 0.925 0.160 18 23561461 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs28942104
rs28942104
NPC1
2 0.925 0.160 18 23536811 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 5 1997 2016