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rs386833883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833883(-;-)
Make rs386833883(-;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35846154
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833883
ebirs386833883
HLIrs386833883
Exacrs386833883
Varsomers386833883
Maprs386833883
PheGenIrs386833883
hapmaprs386833883
1000 genomesrs386833883
hgdprs386833883
ensemblrs386833883
gopubmedrs386833883
geneviewrs386833883
scholarrs386833883
googlers386833883
pharmgkbrs386833883
gwascentralrs386833883
openSNPrs386833883
23andMers386833883
23andMe allrs386833883
SNP Nexus

SNPshotrs386833883
SNPdbers386833883
MSV3drs386833883
GWAS Ctlgrs386833883
Max Magnitude0
ClinVar
Risk rs386833883(;)
Alt rs386833883(;)
Reference rs386833883(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36337056delG
CLNSRC ClinVar
CLNACC RCV000049854.1,


[PMID 10577936OA-icon.png] Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.


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