rs483352897, NAGLU

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.
Abnormality of metabolism/homeostasis
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
5 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
MPS III B
CUI: C0086648
Disease: MPS III B
92 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Mucopolysacchariduria
CUI: C4024726
Disease: Mucopolysacchariduria
2 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
Thick eyebrow
CUI: C1853487
Disease: Thick eyebrow
13 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0