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rs1057516727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057516727(-;-)
Make rs1057516727(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183236544
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516727
dbSNP (old)rs1057516727
ClinGenrs1057516727
ebirs1057516727
HLIrs1057516727
Exacrs1057516727
Gnomadrs1057516727
Varsomers1057516727
Maprs1057516727
PheGenIrs1057516727
Biobankrs1057516727
1000 genomesrs1057516727
hgdprs1057516727
ensemblrs1057516727
gopubmedrs1057516727
geneviewrs1057516727
scholarrs1057516727
googlers1057516727
pharmgkbrs1057516727
gwascentralrs1057516727
openSNPrs1057516727
23andMers1057516727
23andMe allrs1057516727
SNPshotrs1057516727
SNPdbers1057516727
MSV3drs1057516727
GWAS Ctlgrs1057516727
Max Magnitude0
ClinVar
Risk rs1057516727(-;-)
Alt rs1057516727(-;-)
Reference Rs1057516727(CA;CA)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMC2
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.183205679_183205680delCA
CLNSRC
CLNACC RCV000410843.1,