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rs1057516316

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516316(A;A)
Make rs1057516316(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209629840
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516316
dbSNP (old)rs1057516316
ClinGenrs1057516316
ebirs1057516316
HLIrs1057516316
Exacrs1057516316
Gnomadrs1057516316
Varsomers1057516316
LitVarrs1057516316
Maprs1057516316
PheGenIrs1057516316
Biobankrs1057516316
1000 genomesrs1057516316
hgdprs1057516316
ensemblrs1057516316
gopubmedrs1057516316
geneviewrs1057516316
scholarrs1057516316
googlers1057516316
pharmgkbrs1057516316
gwascentralrs1057516316
openSNPrs1057516316
23andMers1057516316
23andMe allrs1057516316
SNPshotrs1057516316
SNPdbers1057516316
MSV3drs1057516316
GWAS Ctlgrs1057516316
Max Magnitude0
ClinVar
Risk rs1057516316(A;A)
Alt rs1057516316(A;A)
Reference Rs1057516316(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.209803185A>T
CLNSRC
CLNACC RCV000412071.1,