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rs121912489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912489(C;G)
Make rs121912489(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49126449
GeneLAMB2
is asnp
is mentioned by
dbSNPrs121912489
ebirs121912489
HLIrs121912489
Exacrs121912489
Varsomers121912489
Maprs121912489
PheGenIrs121912489
hapmaprs121912489
1000 genomesrs121912489
hgdprs121912489
ensemblrs121912489
gopubmedrs121912489
geneviewrs121912489
scholarrs121912489
googlers121912489
pharmgkbrs121912489
gwascentralrs121912489
openSNPrs121912489
23andMers121912489
23andMe allrs121912489
SNP Nexus

SNPshotrs121912489
SNPdbers121912489
MSV3drs121912489
GWAS Ctlgrs121912489
Max Magnitude0
OMIM150325
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912489(G;G)
Alt rs121912489(G;G)
Reference rs121912489(C;C)
Significance Pathogenic
Disease Pierson syndrome
Variation info
Gene LAMB2
CLNDBN Pierson syndrome
Reversed 1
HGVS NC_000003.11:g.49163882G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015631.26,