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: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 6 1997 2013
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.820 1.000 5 1997 2017
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs752914124
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.700 1.000 5 1995 2016
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		0.800 1.000 2 1997 2017
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0