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rs386833959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833959(G;T)
Make rs386833959(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849340
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833959
ebirs386833959
HLIrs386833959
Exacrs386833959
Varsomers386833959
Maprs386833959
PheGenIrs386833959
hapmaprs386833959
1000 genomesrs386833959
hgdprs386833959
ensemblrs386833959
gopubmedrs386833959
geneviewrs386833959
scholarrs386833959
googlers386833959
pharmgkbrs386833959
gwascentralrs386833959
openSNPrs386833959
23andMers386833959
23andMe allrs386833959
SNP Nexus

SNPshotrs386833959
SNPdbers386833959
MSV3drs386833959
GWAS Ctlgrs386833959
Max Magnitude0
ClinVar
Risk rs386833959(A,T;A,T)
Alt rs386833959(A,T;A,T)
Reference rs386833959(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36340242C>A
CLNSRC ClinVar
CLNACC RCV000049934.1,


[PMID 15780077] Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.


[PMID 19321760] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.