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rs386833948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833948(-;-)
Make rs386833948(-;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850971
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833948
ebirs386833948
HLIrs386833948
Exacrs386833948
Varsomers386833948
Maprs386833948
PheGenIrs386833948
hapmaprs386833948
1000 genomesrs386833948
hgdprs386833948
ensemblrs386833948
gopubmedrs386833948
geneviewrs386833948
scholarrs386833948
googlers386833948
pharmgkbrs386833948
gwascentralrs386833948
openSNPrs386833948
23andMers386833948
23andMe allrs386833948
SNP Nexus

SNPshotrs386833948
SNPdbers386833948
MSV3drs386833948
GWAS Ctlgrs386833948
Max Magnitude0
ClinVar
Risk rs386833948(;)
Alt rs386833948(;)
Reference rs386833948(C;C)
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.36341873delG
CLNSRC ClinVar
CLNACC RCV000049923.1,


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