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rs386833922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCA;TCA) 0 common in clinvar
Make rs386833922(CC;CC)
Make rs386833922(CC;TCA)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842167
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833922
ebirs386833922
HLIrs386833922
Exacrs386833922
Varsomers386833922
Maprs386833922
PheGenIrs386833922
hapmaprs386833922
1000 genomesrs386833922
hgdprs386833922
ensemblrs386833922
gopubmedrs386833922
geneviewrs386833922
scholarrs386833922
googlers386833922
pharmgkbrs386833922
gwascentralrs386833922
openSNPrs386833922
23andMers386833922
23andMe allrs386833922
SNP Nexus

SNPshotrs386833922
SNPdbers386833922
MSV3drs386833922
GWAS Ctlgrs386833922
Max Magnitude0
ClinVar
Risk rs386833922(CC;CC)
Alt rs386833922(CC;CC)
Reference rs386833922(TCA;TCA)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333069_36333071delTGAinsGG
CLNSRC ClinVar
CLNACC RCV000049896.1,


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