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rs1057516809

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516809(A;A)
Make rs1057516809(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209630688
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516809
dbSNP (old)rs1057516809
ClinGenrs1057516809
ebirs1057516809
HLIrs1057516809
Exacrs1057516809
Gnomadrs1057516809
Varsomers1057516809
Maprs1057516809
PheGenIrs1057516809
Biobankrs1057516809
1000 genomesrs1057516809
hgdprs1057516809
ensemblrs1057516809
gopubmedrs1057516809
geneviewrs1057516809
scholarrs1057516809
googlers1057516809
pharmgkbrs1057516809
gwascentralrs1057516809
openSNPrs1057516809
23andMers1057516809
23andMe allrs1057516809
SNPshotrs1057516809
SNPdbers1057516809
MSV3drs1057516809
GWAS Ctlgrs1057516809
Max Magnitude0
ClinVar
Risk rs1057516809(A;A)
Alt rs1057516809(A;A)
Reference Rs1057516809(T;T)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209804033A>T
CLNSRC
CLNACC RCV000409210.1,