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rs386833941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGTGTAAGAGCCCTCT;GGTGTAAGAGCCCTCT) 0 common in clinvar
Make rs386833941(-;-)
Make rs386833941(-;GGTGTAAGAGCCCTCT)
ReferenceGRCh38 38.1/141
Chromosome19
Position35826505
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833941
ebirs386833941
HLIrs386833941
Exacrs386833941
Varsomers386833941
Maprs386833941
PheGenIrs386833941
hapmaprs386833941
1000 genomesrs386833941
hgdprs386833941
ensemblrs386833941
gopubmedrs386833941
geneviewrs386833941
scholarrs386833941
googlers386833941
pharmgkbrs386833941
gwascentralrs386833941
openSNPrs386833941
23andMers386833941
23andMe allrs386833941
SNP Nexus

SNPshotrs386833941
SNPdbers386833941
MSV3drs386833941
GWAS Ctlgrs386833941
Max Magnitude0
ClinVar
Risk rs386833941(;)
Alt rs386833941(;)
Reference rs386833941(GGTGTAAGAGCCCTCT;GGTGTAAGAGCCCTCT)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36317407_36317422del16
CLNSRC
CLNACC RCV000049916.1,


[PMID 18614772OA-icon.png] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.