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rs386833904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833904(-;-)
Make rs386833904(-;C)
Make rs386833904(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844154
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833904
ebirs386833904
HLIrs386833904
Exacrs386833904
Varsomers386833904
Maprs386833904
PheGenIrs386833904
hapmaprs386833904
1000 genomesrs386833904
hgdprs386833904
ensemblrs386833904
gopubmedrs386833904
geneviewrs386833904
scholarrs386833904
googlers386833904
pharmgkbrs386833904
gwascentralrs386833904
openSNPrs386833904
23andMers386833904
23andMe allrs386833904
SNP Nexus

SNPshotrs386833904
SNPdbers386833904
MSV3drs386833904
GWAS Ctlgrs386833904
Max Magnitude0
ClinVar
Risk rs386833904(C;C)
Alt rs386833904(C;C)
Reference rs386833904(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36335057dupG
CLNSRC ClinVar
CLNACC RCV000049877.1,


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