PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
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: rs104894170
rs104894170 		0.925 0.160 10 100749914 missense variant G/C snv
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 6 1998 2014
dbSNP: rs1403345811
rs1403345811 		1.000 0.160 10 100809132 missense variant C/T snv
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 6 1998 2014
dbSNP: rs387906530
rs387906530 		1.000 0.160 10 100750699 protein altering variant -/AGACCG delins
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 2 1998 2012
dbSNP: rs104894170
rs104894170 		0.925 0.160 10 100749914 missense variant G/C snv
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1131692055
rs1131692055 		0.925 0.080 10 100781314 missense variant G/A snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1201078720
rs1201078720 		1.000 10 100779535 missense variant A/G snv
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.700 1.000 1 2014 2014
dbSNP: rs1554856032
rs1554856032 		0.925 0.160 10 100750720 missense variant C/T snv
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554856032
rs1554856032 		0.925 0.160 10 100750720 missense variant C/T snv
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.800 1.000 1 2014 2014
dbSNP: rs1554865146
rs1554865146 		10 100809207 stop gained C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2014 2014
dbSNP: rs370214925
rs370214925 		1.000 10 100779578 missense variant C/A;G;T snv 1.9E-04; 5.0E-06
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.700 1.000 1 2014 2014
dbSNP: rs587777708
rs587777708 		1.000 10 100749869 missense variant G/A snv
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.800 1.000 1 2014 2014
dbSNP: rs753350907
rs753350907 		0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs753350907
rs753350907 		0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs753350907
rs753350907 		0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs753350907
rs753350907 		0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs753350907
rs753350907 		0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs75462234
rs75462234 		0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs75462234
rs75462234 		0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs768607170
rs768607170 		1.000 0.160 10 100749772 frameshift variant G/-;GG;GGG delins
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs77453353
rs77453353 		1.000 0.160 10 100749772 frameshift variant G/-;GG;GGG delins
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs79555199
rs79555199 		1.000 0.160 10 100750707 missense variant G/A snv
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.800 1.000 1 2011 2011
dbSNP: rs886037754
rs886037754 		1.000 0.080 10 100749819 frameshift variant GC/- delins
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs886037754
rs886037754 		1.000 0.080 10 100749819 frameshift variant GC/- delins
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs886037755
rs886037755 		1.000 0.080 10 100749889 missense variant G/A snv
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs886037755
rs886037755 		1.000 0.080 10 100749889 missense variant G/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015