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rs1057516400

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057516400(-;-)
Make rs1057516400(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209615272
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516400
dbSNP (old)rs1057516400
ClinGenrs1057516400
ebirs1057516400
HLIrs1057516400
Exacrs1057516400
Gnomadrs1057516400
Varsomers1057516400
Maprs1057516400
PheGenIrs1057516400
Biobankrs1057516400
1000 genomesrs1057516400
hgdprs1057516400
ensemblrs1057516400
gopubmedrs1057516400
geneviewrs1057516400
scholarrs1057516400
googlers1057516400
pharmgkbrs1057516400
gwascentralrs1057516400
openSNPrs1057516400
23andMers1057516400
23andMe allrs1057516400
SNPshotrs1057516400
SNPdbers1057516400
MSV3drs1057516400
GWAS Ctlgrs1057516400
Max Magnitude0
ClinVar
Risk rs1057516400(-;-)
Alt rs1057516400(-;-)
Reference Rs1057516400(TG;TG)
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.209788617_209788618delCA
CLNSRC
CLNACC RCV000408972.1,