Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778336949
rs778336949
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		T 0.800 CausalMutation CLINVAR

dbSNP: rs777267343
rs777267343
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		A 0.800 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894643
rs104894643
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894642
rs104894642
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894640
rs104894640
SGSH
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		T 0.800 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C0011991
Disease: Diarrhea
Diarrhea 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		C 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1843367
Disease: Poor school performance
Poor school performance 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0011991
Disease: Diarrhea
Diarrhea 		A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		A 0.700 CausalMutation CLINVAR