Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776814

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776814(C;T)
Make rs587776814(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209632777
GeneLAMB3
is asnp
is mentioned by
dbSNPrs587776814
ebirs587776814
HLIrs587776814
Exacrs587776814
Varsomers587776814
Maprs587776814
PheGenIrs587776814
hapmaprs587776814
1000 genomesrs587776814
hgdprs587776814
ensemblrs587776814
gopubmedrs587776814
geneviewrs587776814
scholarrs587776814
googlers587776814
pharmgkbrs587776814
gwascentralrs587776814
openSNPrs587776814
23andMers587776814
23andMe allrs587776814
SNP Nexus

SNPshotrs587776814
SNPdbers587776814
MSV3drs587776814
GWAS Ctlgrs587776814
Max Magnitude0
ClinVar
Risk rs587776814(C,T;C,T)
Alt rs587776814(C,T;C,T)
Reference rs587776814(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.209806122C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015654.6,