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: rs104894458
rs104894458
NPC2
1 1.000 0.160 14 74484420 missense variant G/A snv 8.0E-06 0.810 1.000 8 2000 2014
dbSNP: rs80358261
rs80358261
NPC2
3 0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 0.800 1.000 7 2000 2008
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
2 0.925 0.160 14 74493217 stop gained C/A;T snv 7.7E-05; 2.4E-05 0.710 1.000 9 2000 2011
dbSNP: rs151220873
rs151220873
NPC2
1 1.000 0.160 14 74486431 missense variant C/T snv 2.1E-03 1.3E-03 0.700 1.000 7 2000 2008
dbSNP: rs1555345993
rs1555345993
NPC2
1 1.000 0.160 14 74486379 missense variant C/A snv 0.700 1.000 7 2000 2008
dbSNP: rs80358264
rs80358264
NPC2
2 0.925 0.160 14 74484483 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 7 2000 2008
dbSNP: rs104894457
rs104894457
NPC2 ; MIR4709
1 1.000 0.160 14 74480707 stop gained G/A snv 0.700 1.000 3 2006 2015
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 1.000 3 2001 2015
dbSNP: rs80358262
rs80358262
NPC2
2 0.925 0.160 14 74486386 stop gained G/A snv 0.700 1.000 2 2005 2014
dbSNP: rs80358268
rs80358268
NPC2
2 0.925 0.160 14 74486324 splice region variant C/T snv 4.3E-05 1.4E-05 0.700 1.000 2 2001 2017
dbSNP: rs11694
rs11694
NPC2
2 0.925 0.160 14 74484579 missense variant A/G snv 0.700 0
dbSNP: rs140130028
rs140130028
NPC2 ; MIR4709
2 1.000 0.160 14 74480701 splice donor variant C/T snv 3.7E-03 3.9E-03 0.700 0
dbSNP: rs143960270
rs143960270
NPC2
1 1.000 0.160 14 74484500 missense variant C/A snv 1.6E-05 0.700 0
dbSNP: rs1555345616
rs1555345616
NPC2 ; MIR4709
1 1.000 0.160 14 74480721 stop gained C/T snv 0.700 0
dbSNP: rs1555345873
rs1555345873
NPC2
1 1.000 0.160 14 74484585 splice acceptor variant TCTA/- delins 0.700 0
dbSNP: rs1555346368
rs1555346368
NPC2 ; ISCA2
1 1.000 0.160 14 74493273 start lost A/G snv 0.700 0
dbSNP: rs1555346369
rs1555346369
NPC2 ; ISCA2
1 1.000 0.160 14 74493274 start lost T/C snv 0.700 0
dbSNP: rs483352893
rs483352893
NPC2 ; ISCA2
1 1.000 0.160 14 74493272 start lost C/A;G;T snv 0.700 0
dbSNP: rs777654308
rs777654308
NPC2 ; MIR4709
1 1.000 0.160 14 74480781 splice acceptor variant T/C snv 4.0E-06 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: rs80358267
rs80358267
NPC2 ; ISCA2
2 0.925 0.160 14 74493248 frameshift variant C/- del 0.700 0
dbSNP: rs879253740
rs879253740
NPC2 ; ISCA2
5 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0