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rs1057516759

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516759(A;A)
Make rs1057516759(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209617519
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516759
dbSNP (old)rs1057516759
ClinGenrs1057516759
ebirs1057516759
HLIrs1057516759
Exacrs1057516759
Gnomadrs1057516759
Varsomers1057516759
Maprs1057516759
PheGenIrs1057516759
Biobankrs1057516759
1000 genomesrs1057516759
hgdprs1057516759
ensemblrs1057516759
gopubmedrs1057516759
geneviewrs1057516759
scholarrs1057516759
googlers1057516759
pharmgkbrs1057516759
gwascentralrs1057516759
openSNPrs1057516759
23andMers1057516759
23andMe allrs1057516759
SNPshotrs1057516759
SNPdbers1057516759
MSV3drs1057516759
GWAS Ctlgrs1057516759
Max Magnitude0
ClinVar
Risk rs1057516759(A;A)
Alt rs1057516759(A;A)
Reference Rs1057516759(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.209790864C>T
CLNSRC
CLNACC RCV000411623.1,