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: rs1462028977
rs1462028977
NPHS2
0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs1462028977
rs1462028977
NPHS2
0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017
dbSNP: rs1462028977
rs1462028977
NPHS2
0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs1462028977
rs1462028977
NPHS2
0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2009 2009