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rs386833888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833888(C;G)
Make rs386833888(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845719
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833888
ebirs386833888
HLIrs386833888
Exacrs386833888
Varsomers386833888
Maprs386833888
PheGenIrs386833888
hapmaprs386833888
1000 genomesrs386833888
hgdprs386833888
ensemblrs386833888
gopubmedrs386833888
geneviewrs386833888
scholarrs386833888
googlers386833888
pharmgkbrs386833888
gwascentralrs386833888
openSNPrs386833888
23andMers386833888
23andMe allrs386833888
SNP Nexus

SNPshotrs386833888
SNPdbers386833888
MSV3drs386833888
GWAS Ctlgrs386833888
Max Magnitude0
ClinVar
Risk rs386833888(G;G)
Alt rs386833888(G;G)
Reference rs386833888(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36336621G>C
CLNSRC ClinVar
CLNACC RCV000049859.1,


[PMID 17413422] Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community.


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