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rs386833860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGAGAGA;GAGAGAGA) 0 common in clinvar
Make rs386833860(-;-)
Make rs386833860(-;GAGAGAGA)
ReferenceGRCh38 38.1/141
Chromosome19
Position35852305
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833860
ebirs386833860
HLIrs386833860
Exacrs386833860
Varsomers386833860
Maprs386833860
PheGenIrs386833860
hapmaprs386833860
1000 genomesrs386833860
hgdprs386833860
ensemblrs386833860
gopubmedrs386833860
geneviewrs386833860
scholarrs386833860
googlers386833860
pharmgkbrs386833860
gwascentralrs386833860
openSNPrs386833860
23andMers386833860
23andMe allrs386833860
SNP Nexus

SNPshotrs386833860
SNPdbers386833860
MSV3drs386833860
GWAS Ctlgrs386833860
Max Magnitude0
ClinVar
Risk rs386833860(;)
Alt rs386833860(;)
Reference rs386833860(GAGAGAGA;GAGAGAGA)
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.36343207_36343214delTCTCTCTC
CLNSRC ClinVar
CLNACC RCV000049829.1,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.