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rs1057516822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516822(-;-)
Make rs1057516822(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209623966
GeneLAMB3, MIR4260
is asnp
is mentioned by
dbSNPrs1057516822
dbSNP (old)rs1057516822
ClinGenrs1057516822
ebirs1057516822
HLIrs1057516822
Exacrs1057516822
Gnomadrs1057516822
Varsomers1057516822
LitVarrs1057516822
Maprs1057516822
PheGenIrs1057516822
Biobankrs1057516822
1000 genomesrs1057516822
hgdprs1057516822
ensemblrs1057516822
gopubmedrs1057516822
geneviewrs1057516822
scholarrs1057516822
googlers1057516822
pharmgkbrs1057516822
gwascentralrs1057516822
openSNPrs1057516822
23andMers1057516822
23andMe allrs1057516822
SNPshotrs1057516822
SNPdbers1057516822
MSV3drs1057516822
GWAS Ctlgrs1057516822
Max Magnitude0
ClinVar
Risk rs1057516822(-;-)
Alt rs1057516822(-;-)
Reference Rs1057516822(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.209797311delG
CLNSRC
CLNACC RCV000411821.1,