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rs1057517096

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517096(C;T)
Make rs1057517096(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209629752
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057517096
dbSNP (old)rs1057517096
ClinGenrs1057517096
ebirs1057517096
HLIrs1057517096
Exacrs1057517096
Gnomadrs1057517096
Varsomers1057517096
Maprs1057517096
PheGenIrs1057517096
Biobankrs1057517096
1000 genomesrs1057517096
hgdprs1057517096
ensemblrs1057517096
gopubmedrs1057517096
geneviewrs1057517096
scholarrs1057517096
googlers1057517096
pharmgkbrs1057517096
gwascentralrs1057517096
openSNPrs1057517096
23andMers1057517096
23andMe allrs1057517096
SNPshotrs1057517096
SNPdbers1057517096
MSV3drs1057517096
GWAS Ctlgrs1057517096
Max Magnitude0
ClinVar
Risk rs1057517096(T;T)
Alt rs1057517096(T;T)
Reference Rs1057517096(C;C)
Significance 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.209803097G>A
CLNSRC
CLNACC RCV000411684.1,