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rs386833944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833944(C;C)
Make rs386833944(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851008
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833944
ebirs386833944
HLIrs386833944
Exacrs386833944
Varsomers386833944
Maprs386833944
PheGenIrs386833944
hapmaprs386833944
1000 genomesrs386833944
hgdprs386833944
ensemblrs386833944
gopubmedrs386833944
geneviewrs386833944
scholarrs386833944
googlers386833944
pharmgkbrs386833944
gwascentralrs386833944
openSNPrs386833944
23andMers386833944
23andMe allrs386833944
SNP Nexus

SNPshotrs386833944
SNPdbers386833944
MSV3drs386833944
GWAS Ctlgrs386833944
Max Magnitude0
ClinVar
Risk rs386833944(C;C)
Alt rs386833944(C;C)
Reference rs386833944(G;G)
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.36341910C>G
CLNSRC ClinVar
CLNACC RCV000049919.1,


[PMID 19321760] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.