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: rs200482683
rs200482683
NPHS2 ; AXDND1
0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 9 2002 2014
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 8 2002 2014
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C4016901
Disease: NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		0.010 1.000 1 2013 2013
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2013 2013
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2013 2013