rs529855742, SGSH

N. diseases: 15
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 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 17 1997 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0