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rs386833914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833914(-;-)
Make rs386833914(-;A)
Make rs386833914(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851482
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833914
ebirs386833914
HLIrs386833914
Exacrs386833914
Varsomers386833914
Maprs386833914
PheGenIrs386833914
hapmaprs386833914
1000 genomesrs386833914
hgdprs386833914
ensemblrs386833914
gopubmedrs386833914
geneviewrs386833914
scholarrs386833914
googlers386833914
pharmgkbrs386833914
gwascentralrs386833914
openSNPrs386833914
23andMers386833914
23andMe allrs386833914
SNP Nexus

SNPshotrs386833914
SNPdbers386833914
MSV3drs386833914
GWAS Ctlgrs386833914
Max Magnitude0
ClinVar
Risk rs386833914(A;A)
Alt rs386833914(A;A)
Reference rs386833914(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342385dupT
CLNSRC ClinVar
CLNACC RCV000049888.1,


[PMID 15906409] Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.