SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; 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: 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: rs2579330
rs2579330
4 71261172 intron variant C/T snv 0.88
QT interval feature (observable entity)
0.800 1.000 1 2012 2012
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: rs1530976
rs1530976
1.000 0.080 4 71527674 intron variant G/A;C snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17689531
rs17689531
0.925 0.040 4 71157058 intron variant T/C snv 7.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17689531
rs17689531
0.925 0.040 4 71157058 intron variant T/C snv 7.3E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs2363719
rs2363719
4 71272499 intron variant G/A snv 0.10
QT interval feature (observable entity)
0.700 1.000 1 2014 2014
dbSNP: rs2602098
rs2602098
4 71269738 intron variant T/C;G snv
CUI: C0038663
Disease: Suicide attempt
Suicide attempt
Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
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
dbSNP: rs1203164637
rs1203164637
0.925 0.360 4 71557721 missense variant C/T snv 7.0E-06
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2006 2010
dbSNP: rs121908857
rs121908857
0.925 0.360 4 71472728 missense variant G/A snv 7.0E-06
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2016 2018
dbSNP: rs121908858
rs121908858
0.925 0.360 4 71339333 stop gained C/T snv
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2005 2008
dbSNP: rs886059596
rs886059596
1.000 0.080 4 71451214 missense variant A/G snv 4.0E-06
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019