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rs1057517258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517258(A;G)
Make rs1057517258(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209634640
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057517258
dbSNP (old)rs1057517258
ClinGenrs1057517258
ebirs1057517258
HLIrs1057517258
Exacrs1057517258
Gnomadrs1057517258
Varsomers1057517258
Maprs1057517258
PheGenIrs1057517258
Biobankrs1057517258
1000 genomesrs1057517258
hgdprs1057517258
ensemblrs1057517258
gopubmedrs1057517258
geneviewrs1057517258
scholarrs1057517258
googlers1057517258
pharmgkbrs1057517258
gwascentralrs1057517258
openSNPrs1057517258
23andMers1057517258
23andMe allrs1057517258
SNPshotrs1057517258
SNPdbers1057517258
MSV3drs1057517258
GWAS Ctlgrs1057517258
Max Magnitude0
ClinVar
Risk rs1057517258(G;G)
Alt rs1057517258(G;G)
Reference Rs1057517258(A;A)
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.209807985T>C
CLNSRC
CLNACC RCV000412253.1,