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rs386833925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACGCCC;AACGCCC) 0 common in clinvar
Make rs386833925(-;-)
Make rs386833925(-;CAACGCC)
Make rs386833925(CAACGCC;CAACGCC)
ReferenceGRCh38 38.1/141
Chromosome19
Position35841755
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833925
ebirs386833925
HLIrs386833925
Exacrs386833925
Varsomers386833925
Maprs386833925
PheGenIrs386833925
hapmaprs386833925
1000 genomesrs386833925
hgdprs386833925
ensemblrs386833925
gopubmedrs386833925
geneviewrs386833925
scholarrs386833925
googlers386833925
pharmgkbrs386833925
gwascentralrs386833925
openSNPrs386833925
23andMers386833925
23andMe allrs386833925
SNP Nexus

SNPshotrs386833925
SNPdbers386833925
MSV3drs386833925
GWAS Ctlgrs386833925
Max Magnitude0
ClinVar
Risk rs386833925(;)
Alt rs386833925(;)
Reference rs386833925(AACGCCC;AACGCCC)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36332657_36332663delGGCGTTG
CLNSRC ClinVar
CLNACC RCV000049899.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.