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: rs121908856
rs121908856
1.000 0.360 4 71447706 missense variant A/C snv
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 1999 2008
dbSNP: rs121908857
rs121908857
0.925 0.360 4 71472728 missense variant G/A snv 7.0E-06
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 1999 2008
dbSNP: rs1203164637
rs1203164637
0.925 0.360 4 71557721 missense variant C/T snv 7.0E-06
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 6 1999 2008
dbSNP: rs121908858
rs121908858
0.925 0.360 4 71339333 stop gained C/T snv
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553913019
rs1553913019
1.000 0.360 4 71440634 frameshift variant A/- delins
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0