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rs769151482

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs769151482(-;-)
Make rs769151482(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209626876
GeneLAMB3
is asnp
is mentioned by
dbSNPrs769151482
ebirs769151482
HLIrs769151482
Exacrs769151482
Varsomers769151482
Maprs769151482
PheGenIrs769151482
hapmaprs769151482
1000 genomesrs769151482
hgdprs769151482
ensemblrs769151482
gopubmedrs769151482
geneviewrs769151482
scholarrs769151482
googlers769151482
pharmgkbrs769151482
gwascentralrs769151482
openSNPrs769151482
23andMers769151482
23andMe allrs769151482
SNP Nexus

SNPshotrs769151482
SNPdbers769151482
MSV3drs769151482
GWAS Ctlgrs769151482
Max Magnitude0
ClinVar
Risk rs769151482(;)
Alt rs769151482(;)
Reference rs769151482(CT;CT)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.209800221_209800222delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015649.26,