ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1568445893
rs1568445893
0.925 0.200 17 68307626 missense variant G/T snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0