VAX2, ventral anterior homeobox 2, 25806

N. diseases: 15; N. variants: 16
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: rs121964881
rs121964881 		1.000 2 70958103 missense variant G/A snv 2.0E-05 9.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 1995 2017
dbSNP: rs781969081
rs781969081 		1.000 2 70964443 frameshift variant C/-;CC delins 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1995 2017
dbSNP: rs782138777
rs782138777 		1.000 0.280 2 70958399 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 1995 2017
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: rs121964880
rs121964880 		0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121964880
rs121964880 		0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: rs17006555
rs17006555 		2 70942848 intron variant G/C snv 2.6E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17006555
rs17006555 		2 70942848 intron variant G/C snv 2.6E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3771395
rs3771395 		0.925 0.040 2 70905884 intron variant G/A snv 0.13
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3771395
rs3771395 		0.925 0.040 2 70905884 intron variant G/A snv 0.13
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs759219
rs759219 		2 70936095 intron variant C/T snv 0.40 0.41
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
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: rs121964879
rs121964879 		1.000 2 70936045 stop gained C/T snv
CUI: C4016429
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		0.700 0
dbSNP: rs121964880
rs121964880 		0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06
CUI: C4016429
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		0.700 0
dbSNP: rs121964881
rs121964881 		1.000 2 70958103 missense variant G/A snv 2.0E-05 9.1E-05
CUI: C4016429
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		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
dbSNP: rs114234874
rs114234874 		0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114234874
rs114234874 		0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114234874
rs114234874 		0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016