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rs763559509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs763559509(-;-)
Make rs763559509(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209629891
GeneLAMB3
is asnp
is mentioned by
dbSNPrs763559509
dbSNP (classic)rs763559509
ClinGenrs763559509
ebirs763559509
HLIrs763559509
Exacrs763559509
Gnomadrs763559509
Varsomers763559509
LitVarrs763559509
Maprs763559509
PheGenIrs763559509
Biobankrs763559509
1000 genomesrs763559509
hgdprs763559509
ensemblrs763559509
geneviewrs763559509
scholarrs763559509
googlers763559509
pharmgkbrs763559509
gwascentralrs763559509
openSNPrs763559509
23andMers763559509
23andMe allrs763559509
SNPshotrs763559509
SNPdbers763559509
MSV3drs763559509
GWAS Ctlgrs763559509
Max Magnitude0
ClinVar
Risk rs763559509(-;-)
Alt rs763559509(-;-)
Reference Rs763559509(G;G)
Significance Probable-Pathogenic
Disease Epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Epidermolysis bullosa, junctional Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.209803236delG
CLNSRC
CLNACC RCV000399329.1, RCV000409820.1,