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rs1057517312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517312(C;C)
Make rs1057517312(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209638532
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057517312
dbSNP (old)rs1057517312
ClinGenrs1057517312
ebirs1057517312
HLIrs1057517312
Exacrs1057517312
Gnomadrs1057517312
Varsomers1057517312
Maprs1057517312
PheGenIrs1057517312
Biobankrs1057517312
1000 genomesrs1057517312
hgdprs1057517312
ensemblrs1057517312
gopubmedrs1057517312
geneviewrs1057517312
scholarrs1057517312
googlers1057517312
pharmgkbrs1057517312
gwascentralrs1057517312
openSNPrs1057517312
23andMers1057517312
23andMe allrs1057517312
SNPshotrs1057517312
SNPdbers1057517312
MSV3drs1057517312
GWAS Ctlgrs1057517312
Max Magnitude0
ClinVar
Risk rs1057517312(C;C)
Alt rs1057517312(C;C)
Reference Rs1057517312(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.209811877A>G
CLNSRC
CLNACC RCV000409851.1,