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rs1057516935

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516935(-;-)
Make rs1057516935(-;TC)
Make rs1057516935(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183239423
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516935
dbSNP (old)rs1057516935
ClinGenrs1057516935
ebirs1057516935
HLIrs1057516935
Exacrs1057516935
Gnomadrs1057516935
Varsomers1057516935
Maprs1057516935
PheGenIrs1057516935
Biobankrs1057516935
1000 genomesrs1057516935
hgdprs1057516935
ensemblrs1057516935
gopubmedrs1057516935
geneviewrs1057516935
scholarrs1057516935
googlers1057516935
pharmgkbrs1057516935
gwascentralrs1057516935
openSNPrs1057516935
23andMers1057516935
23andMe allrs1057516935
SNPshotrs1057516935
SNPdbers1057516935
MSV3drs1057516935
GWAS Ctlgrs1057516935
Max Magnitude0
ClinVar
Risk rs1057516935(-;-)
Alt rs1057516935(-;-)
Reference Rs1057516935(CT;CT)
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.183208558_183208559delTC
CLNSRC
CLNACC RCV000411025.1,