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rs386833906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs386833906(-;-)
Make rs386833906(-;TG)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844142
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833906
ebirs386833906
HLIrs386833906
Exacrs386833906
Varsomers386833906
Maprs386833906
PheGenIrs386833906
hapmaprs386833906
1000 genomesrs386833906
hgdprs386833906
ensemblrs386833906
gopubmedrs386833906
geneviewrs386833906
scholarrs386833906
googlers386833906
pharmgkbrs386833906
gwascentralrs386833906
openSNPrs386833906
23andMers386833906
23andMe allrs386833906
SNP Nexus

SNPshotrs386833906
SNPdbers386833906
MSV3drs386833906
GWAS Ctlgrs386833906
Max Magnitude0
ClinVar
Risk rs386833906(TGG,CTG;TGG,CTG)
Alt rs386833906(TGG,CTG;TGG,CTG)
Reference rs386833906(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36335044_36335045delCA
CLNSRC ClinVar
CLNACC RCV000049879.1,


[PMID 16703378] Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation.