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rs1057516399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516399(C;T)
Make rs1057516399(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209634506
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516399
dbSNP (old)rs1057516399
ClinGenrs1057516399
ebirs1057516399
HLIrs1057516399
Exacrs1057516399
Gnomadrs1057516399
Varsomers1057516399
Maprs1057516399
PheGenIrs1057516399
Biobankrs1057516399
1000 genomesrs1057516399
hgdprs1057516399
ensemblrs1057516399
gopubmedrs1057516399
geneviewrs1057516399
scholarrs1057516399
googlers1057516399
pharmgkbrs1057516399
gwascentralrs1057516399
openSNPrs1057516399
23andMers1057516399
23andMe allrs1057516399
SNPshotrs1057516399
SNPdbers1057516399
MSV3drs1057516399
GWAS Ctlgrs1057516399
Max Magnitude0
ClinVar
Risk rs1057516399(T;T)
Alt rs1057516399(T;T)
Reference Rs1057516399(C;C)
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.209807851G>A
CLNSRC
CLNACC RCV000411400.1,