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rs1057516693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516693(G;T)
Make rs1057516693(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209633134
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516693
dbSNP (old)rs1057516693
ClinGenrs1057516693
ebirs1057516693
HLIrs1057516693
Exacrs1057516693
Gnomadrs1057516693
Varsomers1057516693
Maprs1057516693
PheGenIrs1057516693
Biobankrs1057516693
1000 genomesrs1057516693
hgdprs1057516693
ensemblrs1057516693
gopubmedrs1057516693
geneviewrs1057516693
scholarrs1057516693
googlers1057516693
pharmgkbrs1057516693
gwascentralrs1057516693
openSNPrs1057516693
23andMers1057516693
23andMe allrs1057516693
SNPshotrs1057516693
SNPdbers1057516693
MSV3drs1057516693
GWAS Ctlgrs1057516693
Max Magnitude0
ClinVar
Risk rs1057516693(T;T)
Alt rs1057516693(T;T)
Reference Rs1057516693(G;G)
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.209806479C>A
CLNSRC
CLNACC RCV000410699.1,