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rs386833917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833917(G;T)
Make rs386833917(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842385
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833917
ebirs386833917
HLIrs386833917
Exacrs386833917
Varsomers386833917
Maprs386833917
PheGenIrs386833917
hapmaprs386833917
1000 genomesrs386833917
hgdprs386833917
ensemblrs386833917
gopubmedrs386833917
geneviewrs386833917
scholarrs386833917
googlers386833917
pharmgkbrs386833917
gwascentralrs386833917
openSNPrs386833917
23andMers386833917
23andMe allrs386833917
SNP Nexus

SNPshotrs386833917
SNPdbers386833917
MSV3drs386833917
GWAS Ctlgrs386833917
Max Magnitude0
ClinVar
Risk rs386833917(T;T)
Alt rs386833917(T;T)
Reference rs386833917(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333287C>A
CLNSRC ClinVar
CLNACC RCV000049891.1,


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