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rs386833894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833894(A;A)
Make rs386833894(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845469
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833894
ebirs386833894
HLIrs386833894
Exacrs386833894
Varsomers386833894
Maprs386833894
PheGenIrs386833894
hapmaprs386833894
1000 genomesrs386833894
hgdprs386833894
ensemblrs386833894
gopubmedrs386833894
geneviewrs386833894
scholarrs386833894
googlers386833894
pharmgkbrs386833894
gwascentralrs386833894
openSNPrs386833894
23andMers386833894
23andMe allrs386833894
SNP Nexus

SNPshotrs386833894
SNPdbers386833894
MSV3drs386833894
GWAS Ctlgrs386833894
Max Magnitude0
ClinVar
Risk rs386833894(A;A)
Alt rs386833894(A;A)
Reference rs386833894(T;T)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36336371A>T
CLNSRC ClinVar
CLNACC RCV000049865.1,


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