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rs1057516838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516838(C;C)
Make rs1057516838(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209623503
GeneLAMB3, MIR4260
is asnp
is mentioned by
dbSNPrs1057516838
dbSNP (old)rs1057516838
ClinGenrs1057516838
ebirs1057516838
HLIrs1057516838
Exacrs1057516838
Gnomadrs1057516838
Varsomers1057516838
Maprs1057516838
PheGenIrs1057516838
Biobankrs1057516838
1000 genomesrs1057516838
hgdprs1057516838
ensemblrs1057516838
gopubmedrs1057516838
geneviewrs1057516838
scholarrs1057516838
googlers1057516838
pharmgkbrs1057516838
gwascentralrs1057516838
openSNPrs1057516838
23andMers1057516838
23andMe allrs1057516838
SNPshotrs1057516838
SNPdbers1057516838
MSV3drs1057516838
GWAS Ctlgrs1057516838
Max Magnitude0
ClinVar
Risk rs1057516838(C;C)
Alt rs1057516838(C;C)
Reference Rs1057516838(T;T)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene MIR4260 LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209796848A>G
CLNSRC
CLNACC RCV000410456.1,