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rs386833956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CACCCCGG;CACCCCGG) 0 common in clinvar
Make rs386833956(CACCCCGG;TT)
Make rs386833956(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849641
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833956
ebirs386833956
HLIrs386833956
Exacrs386833956
Varsomers386833956
Maprs386833956
PheGenIrs386833956
hapmaprs386833956
1000 genomesrs386833956
hgdprs386833956
ensemblrs386833956
gopubmedrs386833956
geneviewrs386833956
scholarrs386833956
googlers386833956
pharmgkbrs386833956
gwascentralrs386833956
openSNPrs386833956
23andMers386833956
23andMe allrs386833956
SNP Nexus

SNPshotrs386833956
SNPdbers386833956
MSV3drs386833956
GWAS Ctlgrs386833956
Max Magnitude0
ClinVar
Risk rs386833956(TTA,A;TTA,A)
Alt rs386833956(TTA,A;TTA,A)
Reference rs386833956(CACCCCGGA;CACCCCGGA)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36340543_36340550delCCGGGGTGinsAA
CLNSRC ClinVar
CLNACC RCV000049931.1,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.


[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.


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


[PMID 20172850OA-icon.png] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).