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: rs1553312833
rs1553312833
NPHS2 ; AXDND1
0.925 0.080 1 179552602 splice donor variant C/T snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2014
dbSNP: rs1553312833
rs1553312833
NPHS2 ; AXDND1
0.925 0.080 1 179552602 splice donor variant C/T snv
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.700 1.000 2 2013 2014