rs61747728, NPHS2

N. diseases: 20
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Idiopathic Nephrotic Syndrome
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
72 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.810 1.000 20 2000 2015
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.700 1.000 9 2002 2015
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
CUI: C4016901
Disease: NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
2 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.700 0
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.090 0.778 9 2002 2018
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
19 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.080 1.000 8 2009 2014
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.080 1.000 8 2009 2014
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.060 0.833 6 2004 2019
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2012 2013
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2003 2008
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2012 2013
Thin basement membrane disease
CUI: C0403440
Disease: Thin basement membrane disease
9 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2008 2012
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
314 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008
Childhood nephrotic syndrome
CUI: C3874381
Disease: Childhood nephrotic syndrome
6 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2006 2006
Familial hematuria
CUI: C1305904
Disease: Familial hematuria
7 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
130 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
36 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
Renal glomerular disease
CUI: C0268731
Disease: Renal glomerular disease
7 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2013 2013
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008
Steroid-sensitive nephrotic syndrome
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
11 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2014 2014