Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 2 2015 2016
dbSNP: rs869312747
rs869312747
NPHS2 ; AXDND1
0.925 0.080 1 179552664 missense variant G/A snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 0
dbSNP: rs869312746
rs869312746
NPHS2
0.925 0.080 1 179575750 stop gained G/A snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 0
dbSNP: rs869025495
rs869025495
NPHS2
0.851 0.080 1 179564715 missense variant G/A snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 0
dbSNP: rs866921812
rs866921812
NPHS2 ; AXDND1
1.000 0.080 1 179551327 missense variant T/C snv 7.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 0
dbSNP: rs786204708
rs786204708
NPHS2
0.925 0.080 1 179561287 splice donor variant A/T snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 2 2004 2014
dbSNP: rs786204583
rs786204583
NPHS2
0.925 0.080 1 179559711 missense variant G/A snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 16 2000 2015
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
1.000 0.080 1 179552625 missense variant G/A snv 4.0E-06 3.5E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 16 2000 2015
dbSNP: rs778055996
rs778055996
NPHS2
0.925 0.080 1 179557122 stop gained G/A;C snv 1.2E-05; 8.4E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
1.000 0.080 1 179551360 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 2.0E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 14 2000 2015
dbSNP: rs776016942
rs776016942
NPHS2 ; AXDND1
0.925 0.080 1 179551452 splice acceptor variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 0
dbSNP: rs775170915
rs775170915
NPHS2 ; AXDND1
0.925 0.080 1 179551377 frameshift variant A/- del 1.2E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 6 2004 2013
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.925 0.080 1 179554491 missense variant A/T snv 1.6E-05 1.0E-04
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 18 2000 2015
dbSNP: rs763818901
rs763818901
NPHS2 ; AXDND1
0.925 0.080 1 179551361 stop gained G/A;C snv 4.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs762631237
rs762631237
NPHS2
0.925 0.080 1 179564689 splice donor variant C/T snv 8.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 2 2008 2015
dbSNP: rs755972674
rs755972674
NPHS2
0.925 0.080 1 179561355 stop gained G/A snv 8.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs750332447
rs750332447
NPHS2
1.000 0.080 1 179564703 missense variant C/A;G snv 4.0E-06; 2.4E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 0
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 8 2000 2011
dbSNP: rs748812981
rs748812981
NPHS2
0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 9 2004 2015
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.925 0.080 1 179552605 missense variant G/A;C snv 2.0E-05; 4.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 22 2000 2015
dbSNP: rs74315347
rs74315347
NPHS2
0.925 0.080 1 179557227 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 20 2000 2015
dbSNP: rs74315346
rs74315346
NPHS2
0.925 0.080 1 179559734 missense variant T/A;C snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 14 2000 2015
dbSNP: rs74315345
rs74315345
NPHS2
0.925 0.080 1 179575591 missense variant C/A;G;T snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 14 2000 2015
dbSNP: rs74315343
rs74315343
NPHS2
0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 1 2002 2002