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rs387906644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906644(A;G)
Make rs387906644(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49132135
GeneLAMB2
is asnp
is mentioned by
dbSNPrs387906644
dbSNP (classic)rs387906644
ClinGenrs387906644
ebirs387906644
HLIrs387906644
Exacrs387906644
Gnomadrs387906644
Varsomers387906644
LitVarrs387906644
Maprs387906644
PheGenIrs387906644
Biobankrs387906644
1000 genomesrs387906644
hgdprs387906644
ensemblrs387906644
geneviewrs387906644
scholarrs387906644
googlers387906644
pharmgkbrs387906644
gwascentralrs387906644
openSNPrs387906644
23andMers387906644
SNPshotrs387906644
SNPdbers387906644
MSV3drs387906644
GWAS Ctlgrs387906644
Max Magnitude0
ClinVar
Risk rs387906644(G;G)
Alt rs387906644(G;G)
Reference Rs387906644(A;A)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene LAMB2
CLNDBN Nephrotic syndrome, type 5, with or without ocular abnormalities
Reversed 1
HGVS NC_000003.11:g.49169568T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022640.25,