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rs386833932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833932(A;A)
Make rs386833932(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851346
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833932
ebirs386833932
HLIrs386833932
Exacrs386833932
Varsomers386833932
Maprs386833932
PheGenIrs386833932
hapmaprs386833932
1000 genomesrs386833932
hgdprs386833932
ensemblrs386833932
gopubmedrs386833932
geneviewrs386833932
scholarrs386833932
googlers386833932
pharmgkbrs386833932
gwascentralrs386833932
openSNPrs386833932
23andMers386833932
23andMe allrs386833932
SNP Nexus

SNPshotrs386833932
SNPdbers386833932
MSV3drs386833932
GWAS Ctlgrs386833932
Max Magnitude0
ClinVar
Risk rs386833932(A;A)
Alt rs386833932(A;A)
Reference rs386833932(G;G)
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.36342248C>T
CLNSRC ClinVar
CLNACC RCV000049906.1,


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