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rs201551805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201551805(A;A)
Make rs201551805(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209625919
GeneLAMB3
is asnp
is mentioned by
dbSNPrs201551805
dbSNP (classic)rs201551805
ClinGenrs201551805
ebirs201551805
HLIrs201551805
Exacrs201551805
Gnomadrs201551805
Varsomers201551805
LitVarrs201551805
Maprs201551805
PheGenIrs201551805
Biobankrs201551805
1000 genomesrs201551805
hgdprs201551805
ensemblrs201551805
geneviewrs201551805
scholarrs201551805
googlers201551805
pharmgkbrs201551805
gwascentralrs201551805
openSNPrs201551805
23andMers201551805
SNPshotrs201551805
SNPdbers201551805
MSV3drs201551805
GWAS Ctlgrs201551805
Max Magnitude0
ClinVar
Risk rs201551805(A;A)
Alt rs201551805(A;A)
Reference Rs201551805(G;G)
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 0
HGVS NC_000001.10:g.209799264G>A
CLNSRC
CLNACC RCV000169086.1, RCV000254699.1,