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rs386833924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTAGGTACACG;CTAGGTACACG) 0 common in clinvar
Make rs386833924(-;-)
Make rs386833924(-;CTAGGTACACG)
ReferenceGRCh38 38.1/141
Chromosome19
Position35841860
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833924
ebirs386833924
HLIrs386833924
Exacrs386833924
Varsomers386833924
Maprs386833924
PheGenIrs386833924
hapmaprs386833924
1000 genomesrs386833924
hgdprs386833924
ensemblrs386833924
gopubmedrs386833924
geneviewrs386833924
scholarrs386833924
googlers386833924
pharmgkbrs386833924
gwascentralrs386833924
openSNPrs386833924
23andMers386833924
23andMe allrs386833924
SNP Nexus

SNPshotrs386833924
SNPdbers386833924
MSV3drs386833924
GWAS Ctlgrs386833924
Max Magnitude0
ClinVar
Risk rs386833924(;)
Alt rs386833924(;)
Reference rs386833924(CTAGGTACACG;CTAGGTACACG)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36332762_36332772delCGTGTACCTAG
CLNSRC ClinVar
CLNACC RCV000049898.1,


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