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: rs137853837
rs137853837
1.000 0.200 X 129562783 missense variant A/G snv
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 10 1997 2011