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rs386833928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATAGGCCGCCC;ATAGGCCGCCC) 0 common in clinvar
Make rs386833928(-;-)
Make rs386833928(-;ATAGGCCGCCC)
ReferenceGRCh38 38.1/141
Chromosome19
Position35839601
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833928
ebirs386833928
HLIrs386833928
Exacrs386833928
Varsomers386833928
Maprs386833928
PheGenIrs386833928
hapmaprs386833928
1000 genomesrs386833928
hgdprs386833928
ensemblrs386833928
gopubmedrs386833928
geneviewrs386833928
scholarrs386833928
googlers386833928
pharmgkbrs386833928
gwascentralrs386833928
openSNPrs386833928
23andMers386833928
23andMe allrs386833928
SNP Nexus

SNPshotrs386833928
SNPdbers386833928
MSV3drs386833928
GWAS Ctlgrs386833928
Max Magnitude0
ClinVar
Risk rs386833928(;)
Alt rs386833928(;)
Reference rs386833928(ATAGGCCGCCC;ATAGGCCGCCC)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36330503_36330513delGGGCGGCCTAT
CLNSRC ClinVar
CLNACC RCV000049902.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.