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rs386833875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833875(G;T)
Make rs386833875(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848318
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833875
ebirs386833875
HLIrs386833875
Exacrs386833875
Varsomers386833875
Maprs386833875
PheGenIrs386833875
hapmaprs386833875
1000 genomesrs386833875
hgdprs386833875
ensemblrs386833875
gopubmedrs386833875
geneviewrs386833875
scholarrs386833875
googlers386833875
pharmgkbrs386833875
gwascentralrs386833875
openSNPrs386833875
23andMers386833875
23andMe allrs386833875
SNP Nexus

SNPshotrs386833875
SNPdbers386833875
MSV3drs386833875
GWAS Ctlgrs386833875
Max Magnitude0
ClinVar
Risk rs386833875(T;T)
Alt rs386833875(T;T)
Reference rs386833875(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.36339220C>A
CLNSRC ClinVar
CLNACC RCV000049846.1,


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