Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1013345784
rs1013345784
NAGLU
1.000 0.120 17 42536274 start lost T/C;G snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1180591588
rs1180591588
NAGLU
1.000 0.120 17 42543068 frameshift variant C/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs118204025
rs118204025
NAGLU
1.000 0.120 17 42541127 missense variant C/G snv 8.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1183634153
rs1183634153
NAGLU
1.000 0.120 17 42543360 missense variant G/A snv 1.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1195831432
rs1195831432
NAGLU
1.000 0.120 17 42544068 stop gained C/G;T snv 4.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1250949842
rs1250949842
NAGLU
1.000 0.120 17 42543431 frameshift variant G/- del 4.5E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1305299665
rs1305299665
NAGLU
1.000 0.120 17 42541111 missense variant A/G;T snv 4.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs138387856
rs138387856
NAGLU
1.000 0.120 17 42543396 stop gained C/T snv 1.3E-05 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1396150639
rs1396150639
NAGLU
1.000 0.120 17 42543466 frameshift variant -/C delins 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1430122594
rs1430122594
NAGLU
1.000 0.120 17 42536352 frameshift variant G/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs147036053
rs147036053
NAGLU
0.925 0.120 17 42543906 missense variant G/A snv 1.3E-05 4.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1485628563
rs1485628563
NAGLU
1.000 0.120 17 42543206 frameshift variant G/- del 8.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555621397
rs1555621397
NAGLU
1.000 0.120 17 42536276 stop gained G/T snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555621402
rs1555621402
NAGLU
1.000 0.120 17 42536284 frameshift variant GCGG/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622000
rs1555622000
NAGLU
1.000 0.120 17 42540979 frameshift variant CAGTTGGG/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622002
rs1555622002
NAGLU
1.000 0.120 17 42540994 frameshift variant A/- del
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622242
rs1555622242
NAGLU
1.000 0.120 17 42543099 stop gained C/T snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622250
rs1555622250
NAGLU
1.000 0.120 17 42543116 frameshift variant G/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622351
rs1555622351
NAGLU
1.000 0.120 17 42543427 stop gained G/A snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622354
rs1555622354
NAGLU
1.000 0.120 17 42543444 frameshift variant GCCCGGCGGT/- del
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622441
rs1555622441
NAGLU
1.000 0.120 17 42543711 stop gained C/T snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622443
rs1555622443
NAGLU
1.000 0.120 17 42543714 stop gained G/T snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622488
rs1555622488
NAGLU
1.000 0.120 17 42543869 stop gained G/A snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622505
rs1555622505
NAGLU
1.000 0.120 17 42543898 frameshift variant TGAGGCCGAGG/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1555622533
rs1555622533
NAGLU
1.000 0.120 17 42543938 stop gained C/G snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0