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rs386833946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833946(A;A)
Make rs386833946(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850975
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833946
ebirs386833946
HLIrs386833946
Exacrs386833946
Varsomers386833946
Maprs386833946
PheGenIrs386833946
hapmaprs386833946
1000 genomesrs386833946
hgdprs386833946
ensemblrs386833946
gopubmedrs386833946
geneviewrs386833946
scholarrs386833946
googlers386833946
pharmgkbrs386833946
gwascentralrs386833946
openSNPrs386833946
23andMers386833946
23andMe allrs386833946
SNP Nexus

SNPshotrs386833946
SNPdbers386833946
MSV3drs386833946
GWAS Ctlgrs386833946
Max Magnitude0
ClinVar
Risk rs386833946(A;A)
Alt rs386833946(A;A)
Reference rs386833946(T;T)
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.36341877A>T
CLNSRC ClinVar
CLNACC RCV000049921.1,


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