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rs1057516486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516486(-;-)
Make rs1057516486(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209623517
GeneLAMB3, MIR4260
is asnp
is mentioned by
dbSNPrs1057516486
dbSNP (classic)rs1057516486
ClinGenrs1057516486
ebirs1057516486
HLIrs1057516486
Exacrs1057516486
Gnomadrs1057516486
Varsomers1057516486
LitVarrs1057516486
Maprs1057516486
PheGenIrs1057516486
Biobankrs1057516486
1000 genomesrs1057516486
hgdprs1057516486
ensemblrs1057516486
geneviewrs1057516486
scholarrs1057516486
googlers1057516486
pharmgkbrs1057516486
gwascentralrs1057516486
openSNPrs1057516486
23andMers1057516486
23andMe allrs1057516486
SNPshotrs1057516486
SNPdbers1057516486
MSV3drs1057516486
GWAS Ctlgrs1057516486
Max Magnitude0
ClinVar
Risk rs1057516486(-;-)
Alt rs1057516486(-;-)
Reference Rs1057516486(C;C)
Significance Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz not provided
Variation info
Gene MIR4260 LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz not provided
Reversed 1
HGVS NC_000001.10:g.209796862delG
CLNSRC
CLNACC RCV000410707.1, RCV000412898.1,