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rs386833931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833931(-;-)
Make rs386833931(-;A)
Make rs386833931(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position35839401
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833931
ebirs386833931
HLIrs386833931
Exacrs386833931
Varsomers386833931
Maprs386833931
PheGenIrs386833931
hapmaprs386833931
1000 genomesrs386833931
hgdprs386833931
ensemblrs386833931
gopubmedrs386833931
geneviewrs386833931
scholarrs386833931
googlers386833931
pharmgkbrs386833931
gwascentralrs386833931
openSNPrs386833931
23andMers386833931
23andMe allrs386833931
SNP Nexus

SNPshotrs386833931
SNPdbers386833931
MSV3drs386833931
GWAS Ctlgrs386833931
Max Magnitude0
ClinVar
Risk rs386833931(A;A)
Alt rs386833931(A;A)
Reference rs386833931(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36330304dupT
CLNSRC ClinVar
CLNACC RCV000049905.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.