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rs386833952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833952(-;-)
Make rs386833952(-;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850438
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833952
ebirs386833952
HLIrs386833952
Exacrs386833952
Varsomers386833952
Maprs386833952
PheGenIrs386833952
hapmaprs386833952
1000 genomesrs386833952
hgdprs386833952
ensemblrs386833952
gopubmedrs386833952
geneviewrs386833952
scholarrs386833952
googlers386833952
pharmgkbrs386833952
gwascentralrs386833952
openSNPrs386833952
23andMers386833952
23andMe allrs386833952
SNP Nexus

SNPshotrs386833952
SNPdbers386833952
MSV3drs386833952
GWAS Ctlgrs386833952
Max Magnitude0
ClinVar
Risk rs386833952(;)
Alt rs386833952(;)
Reference rs386833952(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.36341340delC
CLNSRC ClinVar
CLNACC RCV000049927.1,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.