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rs587776812

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776812(C;T)
Make rs587776812(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209633028
GeneLAMB3
is asnp
is mentioned by
dbSNPrs587776812
ebirs587776812
HLIrs587776812
Exacrs587776812
Varsomers587776812
Maprs587776812
PheGenIrs587776812
hapmaprs587776812
1000 genomesrs587776812
hgdprs587776812
ensemblrs587776812
gopubmedrs587776812
geneviewrs587776812
scholarrs587776812
googlers587776812
pharmgkbrs587776812
gwascentralrs587776812
openSNPrs587776812
23andMers587776812
23andMe allrs587776812
SNP Nexus

SNPshotrs587776812
SNPdbers587776812
MSV3drs587776812
GWAS Ctlgrs587776812
Max Magnitude0
ClinVar
Risk rs587776812(C,T;C,T)
Alt rs587776812(C,T;C,T)
Reference rs587776812(G;G)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209806373C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015650.5,