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rs121912490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912490(A;A)
Make rs121912490(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49130334
GeneLAMB2
is asnp
is mentioned by
dbSNPrs121912490
ebirs121912490
HLIrs121912490
Exacrs121912490
Varsomers121912490
Maprs121912490
PheGenIrs121912490
hapmaprs121912490
1000 genomesrs121912490
hgdprs121912490
ensemblrs121912490
gopubmedrs121912490
geneviewrs121912490
scholarrs121912490
googlers121912490
pharmgkbrs121912490
gwascentralrs121912490
openSNPrs121912490
23andMers121912490
23andMe allrs121912490
SNP Nexus

SNPshotrs121912490
SNPdbers121912490
MSV3drs121912490
GWAS Ctlgrs121912490
Max Magnitude0
OMIM150325
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912490(A;A)
Alt rs121912490(A;A)
Reference rs121912490(T;T)
Significance Pathogenic
Disease Pierson syndrome
Variation info
Gene LAMB2
CLNDBN Pierson syndrome
Reversed 1
HGVS NC_000003.11:g.49167767A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015632.23,