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rs386833872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833872(C;T)
Make rs386833872(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848669
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833872
ebirs386833872
HLIrs386833872
Exacrs386833872
Varsomers386833872
Maprs386833872
PheGenIrs386833872
hapmaprs386833872
1000 genomesrs386833872
hgdprs386833872
ensemblrs386833872
gopubmedrs386833872
geneviewrs386833872
scholarrs386833872
googlers386833872
pharmgkbrs386833872
gwascentralrs386833872
openSNPrs386833872
23andMers386833872
23andMe allrs386833872
SNP Nexus

SNPshotrs386833872
SNPdbers386833872
MSV3drs386833872
GWAS Ctlgrs386833872
Max Magnitude0
ClinVar
Risk rs386833872(T;T)
Alt rs386833872(T;T)
Reference rs386833872(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.36339571G>A
CLNSRC ClinVar
CLNACC RCV000049842.1,


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