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rs1057517353

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517353(-;ATGGA)
Make rs1057517353(ATGGA;ATGGA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183207951
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057517353
dbSNP (old)rs1057517353
ClinGenrs1057517353
ebirs1057517353
HLIrs1057517353
Exacrs1057517353
Gnomadrs1057517353
Varsomers1057517353
Maprs1057517353
PheGenIrs1057517353
Biobankrs1057517353
1000 genomesrs1057517353
hgdprs1057517353
ensemblrs1057517353
gopubmedrs1057517353
geneviewrs1057517353
scholarrs1057517353
googlers1057517353
pharmgkbrs1057517353
gwascentralrs1057517353
openSNPrs1057517353
23andMers1057517353
23andMe allrs1057517353
SNPshotrs1057517353
SNPdbers1057517353
MSV3drs1057517353
GWAS Ctlgrs1057517353
Max Magnitude0
ClinVar
Risk rs1057517353(AATGG;AATGG)
Alt rs1057517353(AATGG;AATGG)
Reference Rs1057517353(-;-)
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.183177082_183177086dupATGGA
CLNSRC
CLNACC RCV000409895.1,