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: 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: rs749740335
rs749740335
NPHS2 ; AXDND1
0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 8 2000 2011
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		0.700 0