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rs121912488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912488(C;T)
Make rs121912488(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49131129
GeneLAMB2
is asnp
is mentioned by
dbSNPrs121912488
ebirs121912488
HLIrs121912488
Exacrs121912488
Varsomers121912488
Maprs121912488
PheGenIrs121912488
hapmaprs121912488
1000 genomesrs121912488
hgdprs121912488
ensemblrs121912488
gopubmedrs121912488
geneviewrs121912488
scholarrs121912488
googlers121912488
pharmgkbrs121912488
gwascentralrs121912488
openSNPrs121912488
23andMers121912488
23andMe allrs121912488
SNP Nexus

SNPshotrs121912488
SNPdbers121912488
MSV3drs121912488
GWAS Ctlgrs121912488
Max Magnitude0
OMIM150325
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912488(T;T)
Alt rs121912488(T;T)
Reference rs121912488(C;C)
Significance Pathogenic
Disease Pierson syndrome
Variation info
Gene LAMB2
CLNDBN Pierson syndrome
Reversed 1
HGVS NC_000003.11:g.49168562G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015629.25,