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: rs1131692055
rs1131692055 		0.925 0.080 10 100781314 missense variant G/A snv
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.800 0
dbSNP: rs104894170
rs104894170 		0.925 0.160 10 100749914 missense variant G/C snv
CUI: C4016304
Disease: PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES 		0.700 0
dbSNP: rs1057518761
rs1057518761 		10 100750693 splice region variant TACTACGAGACCGG/- delins
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs75399846
rs75399846 		1.000 0.160 10 100806519 stop gained 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 0
dbSNP: rs75462234
rs75462234 		0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs75462234
rs75462234 		0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.700 0
dbSNP: rs76675173
rs76675173 		1.000 0.160 10 100749832 frameshift variant TGGCCCACCAGGGTGTGCGGCC/- 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 0
dbSNP: rs77777862
rs77777862 		1.000 0.160 10 100781310 frameshift variant C/- del
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 0
dbSNP: rs78122364
rs78122364 		1.000 0.160 10 100824682 stop gained C/A;T snv 5.2E-05
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 0
dbSNP: rs893370744
rs893370744 		1.000 0.160 10 100809140 missense variant C/G;T snv 7.0E-06
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 0
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: 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: 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: rs10748798
rs10748798 		10 100794914 intron variant C/T snv 0.91
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10883543
rs10883543 		10 100792995 intron variant G/T snv 0.91
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
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: 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: rs4551692
rs4551692 		10 100796696 intron variant G/A snv 0.91
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4551692
rs4551692 		10 100796696 intron variant G/A snv 0.91
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
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: 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