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rs1057516473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516473(-;-)
Make rs1057516473(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183243175
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516473
dbSNP (old)rs1057516473
ClinGenrs1057516473
ebirs1057516473
HLIrs1057516473
Exacrs1057516473
Gnomadrs1057516473
Varsomers1057516473
LitVarrs1057516473
Maprs1057516473
PheGenIrs1057516473
Biobankrs1057516473
1000 genomesrs1057516473
hgdprs1057516473
ensemblrs1057516473
gopubmedrs1057516473
geneviewrs1057516473
scholarrs1057516473
googlers1057516473
pharmgkbrs1057516473
gwascentralrs1057516473
openSNPrs1057516473
23andMers1057516473
23andMe allrs1057516473
SNPshotrs1057516473
SNPdbers1057516473
MSV3drs1057516473
GWAS Ctlgrs1057516473
Max Magnitude0
ClinVar
Risk rs1057516473(-;-)
Alt rs1057516473(-;-)
Reference Rs1057516473(G;G)
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.183212310delG
CLNSRC
CLNACC RCV000409003.1,