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rs1057516241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516241(-;-)
Make rs1057516241(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209634511
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516241
dbSNP (old)rs1057516241
ClinGenrs1057516241
ebirs1057516241
HLIrs1057516241
Exacrs1057516241
Gnomadrs1057516241
Varsomers1057516241
LitVarrs1057516241
Maprs1057516241
PheGenIrs1057516241
Biobankrs1057516241
1000 genomesrs1057516241
hgdprs1057516241
ensemblrs1057516241
gopubmedrs1057516241
geneviewrs1057516241
scholarrs1057516241
googlers1057516241
pharmgkbrs1057516241
gwascentralrs1057516241
openSNPrs1057516241
23andMers1057516241
23andMe allrs1057516241
SNPshotrs1057516241
SNPdbers1057516241
MSV3drs1057516241
GWAS Ctlgrs1057516241
Max Magnitude0
ClinVar
Risk rs1057516241(-;-)
Alt rs1057516241(-;-)
Reference Rs1057516241(AG;AG)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz not provided
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz not provided
Reversed 1
HGVS NC_000001.10:g.209807856_209807857delCT
CLNSRC
CLNACC RCV000409301.1, RCV000413390.1,