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rs386833960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833960(C;T)
Make rs386833960(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849310
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833960
ebirs386833960
HLIrs386833960
Exacrs386833960
Varsomers386833960
Maprs386833960
PheGenIrs386833960
hapmaprs386833960
1000 genomesrs386833960
hgdprs386833960
ensemblrs386833960
gopubmedrs386833960
geneviewrs386833960
scholarrs386833960
googlers386833960
pharmgkbrs386833960
gwascentralrs386833960
openSNPrs386833960
23andMers386833960
23andMe allrs386833960
SNP Nexus

SNPshotrs386833960
SNPdbers386833960
MSV3drs386833960
GWAS Ctlgrs386833960
Max Magnitude0
ClinVar
Risk rs386833960(G,T;G,T)
Alt rs386833960(G,T;G,T)
Reference rs386833960(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.36340212G>A
CLNSRC ClinVar
CLNACC RCV000049935.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.