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rs386833938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833938(A;G)
Make rs386833938(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35831148
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833938
ebirs386833938
HLIrs386833938
Exacrs386833938
Varsomers386833938
Maprs386833938
PheGenIrs386833938
hapmaprs386833938
1000 genomesrs386833938
hgdprs386833938
ensemblrs386833938
gopubmedrs386833938
geneviewrs386833938
scholarrs386833938
googlers386833938
pharmgkbrs386833938
gwascentralrs386833938
openSNPrs386833938
23andMers386833938
23andMe allrs386833938
SNP Nexus

SNPshotrs386833938
SNPdbers386833938
MSV3drs386833938
GWAS Ctlgrs386833938
Max Magnitude0
ClinVar
Risk rs386833938(G;G)
Alt rs386833938(G;G)
Reference rs386833938(A;A)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36322050T>C
CLNSRC ClinVar
CLNACC RCV000049912.1,


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