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rs121912483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912483(C;T)
Make rs121912483(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209634515
GeneLAMB3
is asnp
is mentioned by
dbSNPrs121912483
ebirs121912483
HLIrs121912483
Exacrs121912483
Varsomers121912483
Maprs121912483
PheGenIrs121912483
hapmaprs121912483
1000 genomesrs121912483
hgdprs121912483
ensemblrs121912483
gopubmedrs121912483
geneviewrs121912483
scholarrs121912483
googlers121912483
pharmgkbrs121912483
gwascentralrs121912483
openSNPrs121912483
23andMers121912483
23andMe allrs121912483
SNP Nexus

SNPshotrs121912483
SNPdbers121912483
MSV3drs121912483
GWAS Ctlgrs121912483
Max Magnitude0
OMIM150310
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912483(T;T)
Alt rs121912483(T;T)
Reference rs121912483(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.209807860G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015645.28,