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: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs104894635
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.820 1.000 15 1997 2017
dbSNP: rs104894635
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2003 2018
dbSNP: rs104894635
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 8 2003 2018
dbSNP: rs104894635
rs104894635
SGSH
0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 2 1997 1998
dbSNP: rs104894639
rs104894639
SGSH
0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 8 2003 2018
dbSNP: rs104894639
rs104894639
SGSH
0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2003 2018
dbSNP: rs104894639
rs104894639
SGSH
0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 7 1997 2017
dbSNP: rs778700037
rs778700037
SGSH
0.925 0.120 17 80210933 frameshift variant -/G delins 3.7E-05 3.5E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 7 1997 2013
dbSNP: rs104894637
rs104894637
SGSH
0.925 0.120 17 80217084 missense variant G/A;C snv 4.4E-06; 9.3E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 5 1997 2017
dbSNP: rs778700037
rs778700037
SGSH
0.925 0.120 17 80210933 frameshift variant -/G delins 3.7E-05 3.5E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 4 1997 2013
dbSNP: rs104894637
rs104894637
SGSH
0.925 0.120 17 80217084 missense variant G/A;C snv 4.4E-06; 9.3E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 3 1997 2004
dbSNP: rs374621913
rs374621913
SGSH
0.925 0.120 17 80213852 stop gained G/A;C snv 1.3E-05; 4.2E-06
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 3 2000 2011
dbSNP: rs374621913
rs374621913
SGSH
0.925 0.120 17 80213852 stop gained G/A;C snv 1.3E-05; 4.2E-06
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 2 2000 2004
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