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rs1057516249

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516249(-;-)
Make rs1057516249(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209630638
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516249
dbSNP (old)rs1057516249
ClinGenrs1057516249
ebirs1057516249
HLIrs1057516249
Exacrs1057516249
Gnomadrs1057516249
Varsomers1057516249
Maprs1057516249
PheGenIrs1057516249
Biobankrs1057516249
1000 genomesrs1057516249
hgdprs1057516249
ensemblrs1057516249
gopubmedrs1057516249
geneviewrs1057516249
scholarrs1057516249
googlers1057516249
pharmgkbrs1057516249
gwascentralrs1057516249
openSNPrs1057516249
23andMers1057516249
23andMe allrs1057516249
SNPshotrs1057516249
SNPdbers1057516249
MSV3drs1057516249
GWAS Ctlgrs1057516249
Max Magnitude0
ClinVar
Risk rs1057516249(-;-)
Alt rs1057516249(-;-)
Reference Rs1057516249(G;G)
Significance Probable-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.209803983delC
CLNSRC
CLNACC RCV000412191.1,