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rs386833958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833958(A;A)
Make rs386833958(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849570
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833958
ebirs386833958
HLIrs386833958
Exacrs386833958
Varsomers386833958
Maprs386833958
PheGenIrs386833958
hapmaprs386833958
1000 genomesrs386833958
hgdprs386833958
ensemblrs386833958
gopubmedrs386833958
geneviewrs386833958
scholarrs386833958
googlers386833958
pharmgkbrs386833958
gwascentralrs386833958
openSNPrs386833958
23andMers386833958
23andMe allrs386833958
SNP Nexus

SNPshotrs386833958
SNPdbers386833958
MSV3drs386833958
GWAS Ctlgrs386833958
Max Magnitude0
ClinVar
Risk rs386833958(A;A)
Alt rs386833958(A;A)
Reference rs386833958(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36340472G>T
CLNSRC ClinVar
CLNACC RCV000049933.1,


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.