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rs587776813

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776813(A;G)
Make rs587776813(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209633136
GeneLAMB3
is asnp
is mentioned by
dbSNPrs587776813
ebirs587776813
HLIrs587776813
Exacrs587776813
Varsomers587776813
Maprs587776813
PheGenIrs587776813
hapmaprs587776813
1000 genomesrs587776813
hgdprs587776813
ensemblrs587776813
gopubmedrs587776813
geneviewrs587776813
scholarrs587776813
googlers587776813
pharmgkbrs587776813
gwascentralrs587776813
openSNPrs587776813
23andMers587776813
23andMe allrs587776813
SNP Nexus

SNPshotrs587776813
SNPdbers587776813
MSV3drs587776813
GWAS Ctlgrs587776813
Max Magnitude0
ClinVar
Risk rs587776813(A,G;A,G)
Alt rs587776813(A,G;A,G)
Reference rs587776813(T;T)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209806481A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015652.5,