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: rs111033631
rs111033631
0.925 0.280 X 101348595 stop gained C/A;G snv 5.5E-06
CUI: C1839564
Disease: Jensen syndrome
Jensen syndrome
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2001 2001