{{Rsnum
|rsid=28939695
|Gene=NPHS1
|Chromosome=19
|position=35848142
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.0101
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=NPHS1
}}{{omim
|desc=NEPHROSIS 1, CONGENITAL, FINNISH TYPE
|id=602716
|rsnum=28939695
|variant=0007
}}

{{ClinVar
|rsid=28939695
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=36339044
|CHROM=19
|GMAF=0.0101
|dbSNPBuildID=132
|SSR=0
|SAO=0
|VP=0x05006000000015001e110100
|GENEINFO=NPHS1:4868
|GENE_NAME=NPHS1
|GENE_ID=4868
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.36339044C>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602716.0007
|CLNSIG=5
|CLNCUI=C0403399
|CLNDBN=Finnish congenital nephrotic syndrome
|Disease=Finnish congenital nephrotic syndrome
|CLNACC=RCV000007275.1
|Tags=RV;PM;VLD;G5;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9899; 0.0101
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0403399:256300:839:197601003
|COMMON=1
}}

{{GET Evidence
|gene=NPHS1
|aa_change=Glu447Lys
|aa_change_short=E447K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28939695
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.988
|genetests_testable=Y
|nblosum100=0
|autoscore=3
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}