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rs387906357

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906357(A;T)
Make rs387906357(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842429
GeneNPHS1
is asnp
is mentioned by
dbSNPrs387906357
dbSNP (classic)rs387906357
ClinGenrs387906357
ebirs387906357
HLIrs387906357
Exacrs387906357
Gnomadrs387906357
Varsomers387906357
LitVarrs387906357
Maprs387906357
PheGenIrs387906357
Biobankrs387906357
1000 genomesrs387906357
hgdprs387906357
ensemblrs387906357
geneviewrs387906357
scholarrs387906357
googlers387906357
pharmgkbrs387906357
gwascentralrs387906357
openSNPrs387906357
23andMers387906357
SNPshotrs387906357
SNPdbers387906357
MSV3drs387906357
GWAS Ctlgrs387906357
Max Magnitude0
ClinVar
Risk rs387906357(T;T)
Alt rs387906357(T;T)
Reference Rs387906357(A;A)
Significance Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333331T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007275.2,