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rs121912482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912482(A;A)
Make rs121912482(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209633070
GeneLAMB3
is asnp
is mentioned by
dbSNPrs121912482
ebirs121912482
HLIrs121912482
Exacrs121912482
Varsomers121912482
Maprs121912482
PheGenIrs121912482
hapmaprs121912482
1000 genomesrs121912482
hgdprs121912482
ensemblrs121912482
gopubmedrs121912482
geneviewrs121912482
scholarrs121912482
googlers121912482
pharmgkbrs121912482
gwascentralrs121912482
openSNPrs121912482
23andMers121912482
23andMe allrs121912482
SNP Nexus

SNPshotrs121912482
SNPdbers121912482
MSV3drs121912482
GWAS Ctlgrs121912482
Max Magnitude0
OMIM150310
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912482(A;A)
Alt rs121912482(A;A)
Reference rs121912482(G;G)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209806415C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015644.23,