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rs386833937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833937(-;-)
Make rs386833937(-;GG)
Make rs386833937(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome19
Position35831325
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833937
ebirs386833937
HLIrs386833937
Exacrs386833937
Varsomers386833937
Maprs386833937
PheGenIrs386833937
hapmaprs386833937
1000 genomesrs386833937
hgdprs386833937
ensemblrs386833937
gopubmedrs386833937
geneviewrs386833937
scholarrs386833937
googlers386833937
pharmgkbrs386833937
gwascentralrs386833937
openSNPrs386833937
23andMers386833937
23andMe allrs386833937
SNP Nexus

SNPshotrs386833937
SNPdbers386833937
MSV3drs386833937
GWAS Ctlgrs386833937
Max Magnitude0
ClinVar
Risk rs386833937(GG;GG)
Alt rs386833937(GG;GG)
Reference rs386833937(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36322228_36322229dupCC
CLNSRC ClinVar
CLNACC RCV000049911.1,


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.