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rs267606919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606919(C;T)
Make rs267606919(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35831056
GeneNPHS1
is asnp
is mentioned by
dbSNPrs267606919
dbSNP (classic)rs267606919
ClinGenrs267606919
ebirs267606919
HLIrs267606919
Exacrs267606919
Gnomadrs267606919
Varsomers267606919
LitVarrs267606919
Maprs267606919
PheGenIrs267606919
Biobankrs267606919
1000 genomesrs267606919
hgdprs267606919
ensemblrs267606919
geneviewrs267606919
scholarrs267606919
googlers267606919
pharmgkbrs267606919
gwascentralrs267606919
openSNPrs267606919
23andMers267606919
SNPshotrs267606919
SNPdbers267606919
MSV3drs267606919
GWAS Ctlgrs267606919
Max Magnitude0
ClinVar
Risk rs267606919(T;T)
Alt rs267606919(T;T)
Reference Rs267606919(C;C)
Significance Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36321958G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007276.2,