Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1013345784
NAGLU
1.000 0.120 17 42536274 start lost T/C;G snv 1
rs1555621397
NAGLU
1.000 0.120 17 42536276 stop gained G/T snv 1
rs1555621402
NAGLU
1.000 0.120 17 42536284 frameshift variant GCGG/- delins 1
rs1430122594
NAGLU
1.000 0.120 17 42536352 frameshift variant G/- delins 1
rs1460260015
NAGLU
1.000 0.120 17 42536384 missense variant C/T snv 7.1E-06 1
rs118204024
NAGLU
0.925 0.120 17 42536414 missense variant T/C snv 2
rs867910252
NAGLU
1.000 0.120 17 42536415 missense variant T/C;G snv 1
rs104894599
NAGLU
0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06 2
rs1555621432
NAGLU
1.000 0.120 17 42536465 frameshift variant T/- del 1
rs1486608317
NAGLU
1.000 0.120 17 42536472 missense variant T/C snv 1
rs1555621442
NAGLU
1.000 0.120 17 42536480 frameshift variant -/GCGCG delins 1
rs1431589133
NAGLU
1.000 0.120 17 42536484 frameshift variant GCGCGTGCGGGTGCGCGGC/- delins 8.6E-05 1
rs1555621448
NAGLU
1.000 0.120 17 42536491 frameshift variant -/C delins 1
rs1276484671
NAGLU
1.000 0.120 17 42536507 missense variant G/A snv 2.8E-05 1
rs1555621454
NAGLU
1.000 0.120 17 42536546 missense variant T/C snv 1
rs1567890328
NAGLU
1.000 0.120 17 42536581 stop gained G/A snv 1
rs758785463
NAGLU
1.000 0.120 17 42536615 missense variant C/T snv 1
rs1445294968
NAGLU
1.000 0.120 17 42536630 stop gained G/T snv 1
rs727504028
NAGLU
1.000 0.120 17 42536656 splice donor variant G/T snv 1.0E-05 7.0E-06 1
rs764134891
NAGLU
1.000 0.120 17 42537397 splice acceptor variant G/A snv 8.0E-06 1
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 10
rs659497
NAGLU
1.000 0.120 17 42537437 synonymous variant T/C snv 0.99 0.99 1
rs770684838
NAGLU
1.000 0.120 17 42537475 missense variant T/C;G snv 4.0E-06; 4.0E-06 1
rs886039894
NAGLU
1.000 0.120 17 42537494 frameshift variant T/- del 1
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9