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rs386833951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833951(C;T)
Make rs386833951(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850440
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833951
ebirs386833951
HLIrs386833951
Exacrs386833951
Varsomers386833951
Maprs386833951
PheGenIrs386833951
hapmaprs386833951
1000 genomesrs386833951
hgdprs386833951
ensemblrs386833951
gopubmedrs386833951
geneviewrs386833951
scholarrs386833951
googlers386833951
pharmgkbrs386833951
gwascentralrs386833951
openSNPrs386833951
23andMers386833951
23andMe allrs386833951
SNP Nexus

SNPshotrs386833951
SNPdbers386833951
MSV3drs386833951
GWAS Ctlgrs386833951
Max Magnitude0
ClinVar
Risk rs386833951(T;T)
Alt rs386833951(T;T)
Reference rs386833951(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36341342G>A
CLNSRC ClinVar
CLNACC RCV000049926.1,


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