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rs386833955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833955(A;C)
Make rs386833955(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849655
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833955
ebirs386833955
HLIrs386833955
Exacrs386833955
Varsomers386833955
Maprs386833955
PheGenIrs386833955
hapmaprs386833955
1000 genomesrs386833955
hgdprs386833955
ensemblrs386833955
gopubmedrs386833955
geneviewrs386833955
scholarrs386833955
googlers386833955
pharmgkbrs386833955
gwascentralrs386833955
openSNPrs386833955
23andMers386833955
23andMe allrs386833955
SNP Nexus

SNPshotrs386833955
SNPdbers386833955
MSV3drs386833955
GWAS Ctlgrs386833955
Max Magnitude0
ClinVar
Risk rs386833955(C,G;C,G)
Alt rs386833955(C,G;C,G)
Reference rs386833955(A;A)
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.36340557T>G
CLNSRC ClinVar
CLNACC RCV000049930.1,


[PMID 18614772OA-icon.png] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.