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rs386833919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGCAGCTGG;CTGCAGCTGG) 0 common in clinvar
Make rs386833919(-;-)
Make rs386833919(-;GCTGCAGCTG)
Make rs386833919(GCTGCAGCTG;GCTGCAGCTG)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842230
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833919
ClinGenrs386833919
ebirs386833919
HLIrs386833919
Exacrs386833919
Varsomers386833919
Maprs386833919
PheGenIrs386833919
hapmaprs386833919
1000 genomesrs386833919
hgdprs386833919
ensemblrs386833919
gopubmedrs386833919
geneviewrs386833919
scholarrs386833919
googlers386833919
pharmgkbrs386833919
gwascentralrs386833919
openSNPrs386833919
23andMers386833919
23andMe allrs386833919
SNP Nexus

SNPshotrs386833919
SNPdbers386833919
MSV3drs386833919
GWAS Ctlgrs386833919
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs386833919(CTGCAGCTGG;CTGCAGCTGG)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333132_36333141delCAGCTGCAGC
CLNSRC ClinVar
CLNACC RCV000049893.1,


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