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rs386833949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833949(A;A)
Make rs386833949(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850969
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833949
ebirs386833949
HLIrs386833949
Exacrs386833949
Varsomers386833949
Maprs386833949
PheGenIrs386833949
hapmaprs386833949
1000 genomesrs386833949
hgdprs386833949
ensemblrs386833949
gopubmedrs386833949
geneviewrs386833949
scholarrs386833949
googlers386833949
pharmgkbrs386833949
gwascentralrs386833949
openSNPrs386833949
23andMers386833949
23andMe allrs386833949
SNP Nexus

SNPshotrs386833949
SNPdbers386833949
MSV3drs386833949
GWAS Ctlgrs386833949
Max Magnitude0
ClinVar
Risk rs386833949(A;A)
Alt rs386833949(A;A)
Reference rs386833949(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.36341871A>T
CLNSRC ClinVar
CLNACC RCV000049924.1,


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