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rs386833907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833907(C;T)
Make rs386833907(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35843590
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833907
ebirs386833907
HLIrs386833907
Exacrs386833907
Varsomers386833907
Maprs386833907
PheGenIrs386833907
hapmaprs386833907
1000 genomesrs386833907
hgdprs386833907
ensemblrs386833907
gopubmedrs386833907
geneviewrs386833907
scholarrs386833907
googlers386833907
pharmgkbrs386833907
gwascentralrs386833907
openSNPrs386833907
23andMers386833907
23andMe allrs386833907
SNP Nexus

SNPshotrs386833907
SNPdbers386833907
MSV3drs386833907
GWAS Ctlgrs386833907
Max Magnitude0
ClinVar
Risk rs386833907(T;T)
Alt rs386833907(T;T)
Reference rs386833907(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.36334492G>A
CLNSRC ClinVar
CLNACC RCV000049880.1,


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