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rs1057516756

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516756(C;T)
Make rs1057516756(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209617924
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516756
dbSNP (old)rs1057516756
ClinGenrs1057516756
ebirs1057516756
HLIrs1057516756
Exacrs1057516756
Gnomadrs1057516756
Varsomers1057516756
Maprs1057516756
PheGenIrs1057516756
Biobankrs1057516756
1000 genomesrs1057516756
hgdprs1057516756
ensemblrs1057516756
gopubmedrs1057516756
geneviewrs1057516756
scholarrs1057516756
googlers1057516756
pharmgkbrs1057516756
gwascentralrs1057516756
openSNPrs1057516756
23andMers1057516756
23andMe allrs1057516756
SNPshotrs1057516756
SNPdbers1057516756
MSV3drs1057516756
GWAS Ctlgrs1057516756
Max Magnitude0
ClinVar
Risk rs1057516756(T;T)
Alt rs1057516756(T;T)
Reference Rs1057516756(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.209791269G>A
CLNSRC
CLNACC RCV000410367.1,