Source: CLINVAR

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: rs761607612
rs761607612
SGSH
1.000 0.120 17 80214757 missense variant C/T snv 1.6E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 12 1997 2017
dbSNP: rs104894636
rs104894636
SGSH
1.000 0.120 17 80217061 missense variant G/A snv 1.5E-04 2.0E-04
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.810 1.000 11 1997 2017
dbSNP: rs770947426
rs770947426
SGSH
1.000 0.120 17 80210881 frameshift variant G/- delins 6.3E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 9 1997 2013
dbSNP: rs104894638
rs104894638
SGSH
1.000 0.120 17 80214672 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 8 1997 2017
dbSNP: rs104894641
rs104894641
SGSH
1.000 0.120 17 80210663 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.810 1.000 8 1997 2017
dbSNP: rs104894640
rs104894640
SGSH
1.000 0.120 17 80210856 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 6 1997 2017
dbSNP: rs753472891
rs753472891
SGSH
1.000 0.120 17 80213846 missense variant C/T snv 1.7E-05 4.9E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 6 1997 2013
dbSNP: rs104894643
rs104894643
SGSH
1.000 0.120 17 80214218 missense variant C/G;T snv 4.1E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 5 1997 2017
dbSNP: rs774010006
rs774010006
SGSH
1.000 0.120 17 80215120 missense variant C/T snv 8.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 5 1997 2014
dbSNP: rs777267343
rs777267343
SGSH
1.000 0.120 17 80210664 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 5 1997 2017
dbSNP: rs144143780
rs144143780
SGSH
1.000 0.120 17 80210822 missense variant T/C snv 3.2E-05 2.8E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 4 1997 2017
dbSNP: rs1555620214
rs1555620214
SGSH
1.000 0.120 17 80210795 missense variant T/C snv
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 4 2013 2016
dbSNP: rs753666460
rs753666460
SGSH
1.000 0.120 17 80214264 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 4 2004 2014
dbSNP: rs777956287
rs777956287
SGSH
1.000 0.120 17 80210826 frameshift variant C/- del 7.0E-06
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 4 1997 2014
dbSNP: rs778336949
rs778336949
SGSH
1.000 0.120 17 80217060 missense variant C/T snv
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 4 1997 2017
dbSNP: rs143947056
rs143947056
SGSH
1.000 0.120 17 80212143 missense variant G/A snv 3.6E-05 4.2E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 3 2002 2016
dbSNP: rs745884647
rs745884647
SGSH
1.000 0.120 17 80212109 missense variant C/A;G;T snv 8.0E-06; 4.0E-06; 8.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 3 2006 2014
dbSNP: rs764057581
rs764057581
SGSH
1.000 0.120 17 80210794 missense variant G/T snv 2.0E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 3 1997 2017
dbSNP: rs766938111
rs766938111
SGSH
1.000 0.120 17 80210898 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 3 1997 2017
dbSNP: rs1046551417
rs1046551417
SGSH
1.000 0.120 17 80212203 missense variant C/A;G;T snv 8.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 2000 2016
dbSNP: rs1250300189
rs1250300189
SGSH ; SLC26A11
1.000 0.120 17 80220313 start lost T/C snv 2.2E-05 7.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 2013 2014
dbSNP: rs1555621971
rs1555621971
SGSH
1.000 0.120 17 80214744 frameshift variant -/C delins
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 1997 2012
dbSNP: rs398123244
rs398123244
SGSH
1.000 0.120 17 80210816 protein altering variant -/CGCTGG delins 4.0E-06; 1.6E-05; 1.2E-05 1.4E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 2000 2011
dbSNP: rs746776254
rs746776254
SGSH
1.000 0.120 17 80212208 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 2011 2017
dbSNP: rs781572815
rs781572815
SGSH
1.000 0.120 17 80210532 frameshift variant C/- del 8.2E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 2013 2014