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rs121912485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912485(C;T)
Make rs121912485(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209618555
GeneLAMB3
is asnp
is mentioned by
dbSNPrs121912485
ebirs121912485
HLIrs121912485
Exacrs121912485
Varsomers121912485
Maprs121912485
PheGenIrs121912485
hapmaprs121912485
1000 genomesrs121912485
hgdprs121912485
ensemblrs121912485
gopubmedrs121912485
geneviewrs121912485
scholarrs121912485
googlers121912485
pharmgkbrs121912485
gwascentralrs121912485
openSNPrs121912485
23andMers121912485
23andMe allrs121912485
SNP Nexus

SNPshotrs121912485
SNPdbers121912485
MSV3drs121912485
GWAS Ctlgrs121912485
Max Magnitude0
OMIM150310
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912485(T;T)
Alt rs121912485(T;T)
Reference rs121912485(C;C)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209791900G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015647.27,