rs138504221, SGSH

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
69 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.820 1.000 19 1997 2017
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
15 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 1.000 6 1997 2013
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
Severe visual impairment
CUI: C1301509
Disease: Severe visual impairment
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0