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rs1057516219

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516219(-;G)
Make rs1057516219(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209625800
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516219
dbSNP (old)rs1057516219
ClinGenrs1057516219
ebirs1057516219
HLIrs1057516219
Exacrs1057516219
Gnomadrs1057516219
Varsomers1057516219
Maprs1057516219
PheGenIrs1057516219
Biobankrs1057516219
1000 genomesrs1057516219
hgdprs1057516219
ensemblrs1057516219
gopubmedrs1057516219
geneviewrs1057516219
scholarrs1057516219
googlers1057516219
pharmgkbrs1057516219
gwascentralrs1057516219
openSNPrs1057516219
23andMers1057516219
23andMe allrs1057516219
SNPshotrs1057516219
SNPdbers1057516219
MSV3drs1057516219
GWAS Ctlgrs1057516219
Max Magnitude0
ClinVar
Risk rs1057516219(G;G)
Alt rs1057516219(G;G)
Reference Rs1057516219(-;-)
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.209799146dupC
CLNSRC
CLNACC RCV000410580.1,