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rs1057517207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517207(C;T)
Make rs1057517207(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209623693
GeneLAMB3, MIR4260
is asnp
is mentioned by
dbSNPrs1057517207
dbSNP (old)rs1057517207
ClinGenrs1057517207
ebirs1057517207
HLIrs1057517207
Exacrs1057517207
Gnomadrs1057517207
Varsomers1057517207
LitVarrs1057517207
Maprs1057517207
PheGenIrs1057517207
Biobankrs1057517207
1000 genomesrs1057517207
hgdprs1057517207
ensemblrs1057517207
gopubmedrs1057517207
geneviewrs1057517207
scholarrs1057517207
googlers1057517207
pharmgkbrs1057517207
gwascentralrs1057517207
openSNPrs1057517207
23andMers1057517207
23andMe allrs1057517207
SNPshotrs1057517207
SNPdbers1057517207
MSV3drs1057517207
GWAS Ctlgrs1057517207
Max Magnitude0
ClinVar
Risk rs1057517207(T;T)
Alt rs1057517207(T;T)
Reference Rs1057517207(C;C)
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.209797038G>A
CLNSRC
CLNACC RCV000410937.1,