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rs386833867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833867(C;T)
Make rs386833867(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848704
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833867
ebirs386833867
HLIrs386833867
Exacrs386833867
Varsomers386833867
Maprs386833867
PheGenIrs386833867
hapmaprs386833867
1000 genomesrs386833867
hgdprs386833867
ensemblrs386833867
gopubmedrs386833867
geneviewrs386833867
scholarrs386833867
googlers386833867
pharmgkbrs386833867
gwascentralrs386833867
openSNPrs386833867
23andMers386833867
23andMe allrs386833867
SNP Nexus

SNPshotrs386833867
SNPdbers386833867
MSV3drs386833867
GWAS Ctlgrs386833867
Max Magnitude0
ClinVar
Risk rs386833867(T;T)
Alt rs386833867(T;T)
Reference rs386833867(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.36339606G>A
CLNSRC ClinVar
CLNACC RCV000049837.1,


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