VAX2, ventral anterior homeobox 2, 25806

N. diseases: 15; N. variants: 16
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness ×
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: rs781838938
rs781838938 		1.000 0.280 2 70963289 missense variant C/G;T snv 1.6E-05; 4.0E-06
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 1999 2003
dbSNP: rs121964880
rs121964880 		0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1999 2003
dbSNP: rs782500780
rs782500780 		1.000 0.280 2 70959962 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1999 2003
dbSNP: rs145536062
rs145536062 		1.000 0.280 2 70963195 stop gained C/T snv 1.6E-05 4.2E-05
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553419751
rs1553419751 		1.000 0.280 2 70959977 stop gained G/T snv
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553420702
rs1553420702 		1.000 0.280 2 70964543 splice donor variant G/C snv
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1161604514
rs1161604514 		1.000 0.280 2 70962814 missense variant A/C;G snv 1.4E-05
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727505222
rs727505222 		1.000 0.280 2 70959020 missense variant C/A;T snv 3.6E-05; 4.4E-05
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs782138777
rs782138777 		1.000 0.280 2 70958399 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0