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rs769967565

From SNPedia

Orientationplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs769967565(-;-)
Make rs769967565(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209627502
GeneLAMB3
is asnp
is mentioned by
dbSNPrs769967565
ebirs769967565
HLIrs769967565
Exacrs769967565
Varsomers769967565
Maprs769967565
PheGenIrs769967565
hapmaprs769967565
1000 genomesrs769967565
hgdprs769967565
ensemblrs769967565
gopubmedrs769967565
geneviewrs769967565
scholarrs769967565
googlers769967565
pharmgkbrs769967565
gwascentralrs769967565
openSNPrs769967565
23andMers769967565
23andMe allrs769967565
SNP Nexus

SNPshotrs769967565
SNPdbers769967565
MSV3drs769967565
GWAS Ctlgrs769967565
Max Magnitude0
ClinVar
Risk rs769967565(;)
Alt rs769967565(;)
Reference rs769967565(TG;TG)
Significance Probable-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.209800847_209800848delTG
CLNSRC
CLNACC RCV000169387.1,