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rs80356678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs80356678(-;G)
Make rs80356678(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23873195
GeneLAMA3
is asnp
is mentioned by
dbSNPrs80356678
dbSNP (classic)rs80356678
ClinGenrs80356678
ebirs80356678
HLIrs80356678
Exacrs80356678
Gnomadrs80356678
Varsomers80356678
LitVarrs80356678
Maprs80356678
PheGenIrs80356678
Biobankrs80356678
1000 genomesrs80356678
hgdprs80356678
ensemblrs80356678
geneviewrs80356678
scholarrs80356678
googlers80356678
pharmgkbrs80356678
gwascentralrs80356678
openSNPrs80356678
23andMers80356678
SNPshotrs80356678
SNPdbers80356678
MSV3drs80356678
GWAS Ctlgrs80356678
Max Magnitude0
ClinVar
Risk rs80356678(G;G)
Alt rs80356678(G;G)
Reference Rs80356678(-;-)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMA3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000018.9:g.21453159dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020425.2,