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rs121912487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912487(A;C)
Make rs121912487(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position209633079
GeneLAMB3
is asnp
is mentioned by
dbSNPrs121912487
ebirs121912487
HLIrs121912487
Exacrs121912487
Varsomers121912487
Maprs121912487
PheGenIrs121912487
hapmaprs121912487
1000 genomesrs121912487
hgdprs121912487
ensemblrs121912487
gopubmedrs121912487
geneviewrs121912487
scholarrs121912487
googlers121912487
pharmgkbrs121912487
gwascentralrs121912487
openSNPrs121912487
23andMers121912487
23andMe allrs121912487
SNP Nexus

SNPshotrs121912487
SNPdbers121912487
MSV3drs121912487
GWAS Ctlgrs121912487
Max Magnitude0
OMIM150310
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912487(C;C)
Alt rs121912487(C;C)
Reference rs121912487(A;A)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209806424T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015653.5,