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: 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: rs748812981
rs748812981
NPHS2
0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 9 2004 2015
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: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2004 2004
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: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2004 2004