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rs386833915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833915(C;T)
Make rs386833915(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842394
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833915
ebirs386833915
HLIrs386833915
Exacrs386833915
Varsomers386833915
Maprs386833915
PheGenIrs386833915
hapmaprs386833915
1000 genomesrs386833915
hgdprs386833915
ensemblrs386833915
gopubmedrs386833915
geneviewrs386833915
scholarrs386833915
googlers386833915
pharmgkbrs386833915
gwascentralrs386833915
openSNPrs386833915
23andMers386833915
23andMe allrs386833915
SNP Nexus

SNPshotrs386833915
SNPdbers386833915
MSV3drs386833915
GWAS Ctlgrs386833915
Max Magnitude0
ClinVar
Risk rs386833915(T;T)
Alt rs386833915(T;T)
Reference rs386833915(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.36333296G>A
CLNSRC ClinVar
CLNACC RCV000049889.1,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.