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rs386833940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833940(A;G)
Make rs386833940(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35826647
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833940
ebirs386833940
HLIrs386833940
Exacrs386833940
Varsomers386833940
Maprs386833940
PheGenIrs386833940
hapmaprs386833940
1000 genomesrs386833940
hgdprs386833940
ensemblrs386833940
gopubmedrs386833940
geneviewrs386833940
scholarrs386833940
googlers386833940
pharmgkbrs386833940
gwascentralrs386833940
openSNPrs386833940
23andMers386833940
23andMe allrs386833940
SNP Nexus

SNPshotrs386833940
SNPdbers386833940
MSV3drs386833940
GWAS Ctlgrs386833940
Max Magnitude0
ClinVar
Risk rs386833940(G;G)
Alt rs386833940(G;G)
Reference rs386833940(A;A)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36317549T>C
CLNSRC ClinVar
CLNACC RCV000049915.1,


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