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rs121912492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912492(C;C)
Make rs121912492(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49130815
GeneLAMB2
is asnp
is mentioned by
dbSNPrs121912492
ebirs121912492
HLIrs121912492
Exacrs121912492
Varsomers121912492
Maprs121912492
PheGenIrs121912492
hapmaprs121912492
1000 genomesrs121912492
hgdprs121912492
ensemblrs121912492
gopubmedrs121912492
geneviewrs121912492
scholarrs121912492
googlers121912492
pharmgkbrs121912492
gwascentralrs121912492
openSNPrs121912492
23andMers121912492
23andMe allrs121912492
SNP Nexus

SNPshotrs121912492
SNPdbers121912492
MSV3drs121912492
GWAS Ctlgrs121912492
Max Magnitude0
OMIM150325
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912492(C;C)
Alt rs121912492(C;C)
Reference rs121912492(T;T)
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.49168248A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015635.22,