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: rs104894601
rs104894601
NAGLU
1.000 0.120 17 42538691 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.810 1.000 16 1998 2017
dbSNP: rs104894597
rs104894597
NAGLU
1.000 0.120 17 42543699 missense variant C/T snv 3.2E-05 3.5E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 21 1998 2017
dbSNP: rs104894598
rs104894598
NAGLU
0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 20 1998 2017
dbSNP: rs1358994052
rs1358994052
NAGLU
1.000 0.120 17 42541059 missense variant G/A;C snv 1.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 18 1998 2017
dbSNP: rs104894590
rs104894590
NAGLU
0.925 0.120 17 42544027 missense variant G/A;T snv 1.6E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 17 1996 2017
dbSNP: rs104894596
rs104894596
NAGLU
1.000 0.120 17 42543450 missense variant C/A;T snv 2.7E-05 1.4E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 17 1998 2017
dbSNP: rs527236037
rs527236037
NAGLU
1.000 0.120 17 42543955 missense variant G/A;T snv 4.1E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 17 1998 2017
dbSNP: rs768814260
rs768814260
NAGLU
0.925 0.120 17 42543247 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 17 1998 2017
dbSNP: rs763299645
rs763299645
NAGLU
1.000 0.120 17 42544026 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 16 1998 2017
dbSNP: rs104894594
rs104894594
NAGLU
1.000 0.120 17 42543933 missense variant C/A;T snv 4.2E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 15 1998 2017
dbSNP: rs104894595
rs104894595
NAGLU
1.000 0.120 17 42543568 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 15 1998 2017
dbSNP: rs1555621454
rs1555621454
NAGLU
1.000 0.120 17 42536546 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 15 1998 2017
dbSNP: rs104894599
rs104894599
NAGLU
0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.710 1.000 15 1998 2017
dbSNP: rs104894592
rs104894592
NAGLU
0.925 0.160 17 42541074 stop gained C/T snv 5.6E-05 9.8E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.710 1.000 12 1996 2017
dbSNP: rs118204024
rs118204024
NAGLU
0.925 0.120 17 42536414 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.710 1.000 1 2000 2000
dbSNP: rs104894593
rs104894593
NAGLU
1.000 0.120 17 42543934 missense variant G/A snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs104894600
rs104894600
NAGLU
1.000 0.120 17 42541125 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs1276484671
rs1276484671
NAGLU
1.000 0.120 17 42536507 missense variant G/A snv 2.8E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs1392732615
rs1392732615
NAGLU
1.000 0.120 17 42541024 missense variant T/C snv 4.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs1460260015
rs1460260015
NAGLU
1.000 0.120 17 42536384 missense variant C/T snv 7.1E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs1465855291
rs1465855291
NAGLU
1.000 0.120 17 42538734 missense variant A/G snv 4.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs1555622482
rs1555622482
NAGLU
1.000 0.120 17 42543857 missense variant G/T snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs200909691
rs200909691
NAGLU
1.000 0.120 17 42543451 missense variant G/A snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs368687817
rs368687817
NAGLU
1.000 0.120 17 42543079 missense variant C/T snv 3.3E-05 4.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs375103824
rs375103824
NAGLU
1.000 0.120 17 42543370 missense variant A/C;G snv 4.1E-06; 1.6E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017