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rs1057516947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516947(-;-)
Make rs1057516947(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209634450
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516947
dbSNP (classic)rs1057516947
ClinGenrs1057516947
ebirs1057516947
HLIrs1057516947
Exacrs1057516947
Gnomadrs1057516947
Varsomers1057516947
LitVarrs1057516947
Maprs1057516947
PheGenIrs1057516947
Biobankrs1057516947
1000 genomesrs1057516947
hgdprs1057516947
ensemblrs1057516947
geneviewrs1057516947
scholarrs1057516947
googlers1057516947
pharmgkbrs1057516947
gwascentralrs1057516947
openSNPrs1057516947
23andMers1057516947
23andMe allrs1057516947
SNPshotrs1057516947
SNPdbers1057516947
MSV3drs1057516947
GWAS Ctlgrs1057516947
Max Magnitude0
ClinVar
Risk rs1057516947(-;-)
Alt rs1057516947(-;-)
Reference Rs1057516947(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.209807795delC
CLNSRC
CLNACC RCV000410915.1,