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rs386833950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833950(C;C)
Make rs386833950(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850956
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833950
ebirs386833950
HLIrs386833950
Exacrs386833950
Varsomers386833950
Maprs386833950
PheGenIrs386833950
hapmaprs386833950
1000 genomesrs386833950
hgdprs386833950
ensemblrs386833950
gopubmedrs386833950
geneviewrs386833950
scholarrs386833950
googlers386833950
pharmgkbrs386833950
gwascentralrs386833950
openSNPrs386833950
23andMers386833950
23andMe allrs386833950
SNP Nexus

SNPshotrs386833950
SNPdbers386833950
MSV3drs386833950
GWAS Ctlgrs386833950
Max Magnitude0
ClinVar
Risk rs386833950(C;C)
Alt rs386833950(C;C)
Reference rs386833950(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.36341858C>G
CLNSRC ClinVar
CLNACC RCV000049925.1,


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