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rs121912484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912484(A;A)
Make rs121912484(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209625794
GeneLAMB3
is asnp
is mentioned by
dbSNPrs121912484
ebirs121912484
HLIrs121912484
Exacrs121912484
Varsomers121912484
Maprs121912484
PheGenIrs121912484
hapmaprs121912484
1000 genomesrs121912484
hgdprs121912484
ensemblrs121912484
gopubmedrs121912484
geneviewrs121912484
scholarrs121912484
googlers121912484
pharmgkbrs121912484
gwascentralrs121912484
openSNPrs121912484
23andMers121912484
23andMe allrs121912484
SNP Nexus

SNPshotrs121912484
SNPdbers121912484
MSV3drs121912484
GWAS Ctlgrs121912484
Max Magnitude0
OMIM150310
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912484(A;A)
Alt rs121912484(A;A)
Reference rs121912484(G;G)
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.209799139C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015646.26,