Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516884

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057516884(-;-)
Make rs1057516884(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209650077
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516884
dbSNP (old)rs1057516884
ClinGenrs1057516884
ebirs1057516884
HLIrs1057516884
Exacrs1057516884
Gnomadrs1057516884
Varsomers1057516884
Maprs1057516884
PheGenIrs1057516884
Biobankrs1057516884
1000 genomesrs1057516884
hgdprs1057516884
ensemblrs1057516884
gopubmedrs1057516884
geneviewrs1057516884
scholarrs1057516884
googlers1057516884
pharmgkbrs1057516884
gwascentralrs1057516884
openSNPrs1057516884
23andMers1057516884
23andMe allrs1057516884
SNPshotrs1057516884
SNPdbers1057516884
MSV3drs1057516884
GWAS Ctlgrs1057516884
Max Magnitude0
ClinVar
Risk rs1057516884(-;-)
Alt rs1057516884(-;-)
Reference Rs1057516884(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.209823422_209823423delCA
CLNSRC
CLNACC RCV000412261.1,