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rs386833903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGCACTGC;TGCACTGC) 0 common in clinvar
Make rs386833903(-;-)
Make rs386833903(-;TGCACTGC)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844152
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833903
ebirs386833903
HLIrs386833903
Exacrs386833903
Varsomers386833903
Maprs386833903
PheGenIrs386833903
hapmaprs386833903
1000 genomesrs386833903
hgdprs386833903
ensemblrs386833903
gopubmedrs386833903
geneviewrs386833903
scholarrs386833903
googlers386833903
pharmgkbrs386833903
gwascentralrs386833903
openSNPrs386833903
23andMers386833903
23andMe allrs386833903
SNP Nexus

SNPshotrs386833903
SNPdbers386833903
MSV3drs386833903
GWAS Ctlgrs386833903
Max Magnitude0
ClinVar
Risk rs386833903(;)
Alt rs386833903(;)
Reference rs386833903(TGCACTGC;TGCACTGC)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36335054_36335061delGCAGTGCA
CLNSRC Counsyl
CLNACC RCV000049876.2,


[PMID 15780077] Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.


[PMID 19194555OA-icon.png] Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.