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rs80356679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356679(A;T)
Make rs80356679(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23907863
GeneLAMA3
is asnp
is mentioned by
dbSNPrs80356679
dbSNP (classic)rs80356679
ClinGenrs80356679
ebirs80356679
HLIrs80356679
Exacrs80356679
Gnomadrs80356679
Varsomers80356679
LitVarrs80356679
Maprs80356679
PheGenIrs80356679
Biobankrs80356679
1000 genomesrs80356679
hgdprs80356679
ensemblrs80356679
geneviewrs80356679
scholarrs80356679
googlers80356679
pharmgkbrs80356679
gwascentralrs80356679
openSNPrs80356679
23andMers80356679
SNPshotrs80356679
SNPdbers80356679
MSV3drs80356679
GWAS Ctlgrs80356679
Max Magnitude0
ClinVar
Risk rs80356679(T;T)
Alt rs80356679(T;T)
Reference Rs80356679(A;A)
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.21487827A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020426.2,