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rs1057516218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1057516218(-;-)
Make rs1057516218(-;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183223248
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516218
dbSNP (old)rs1057516218
ClinGenrs1057516218
ebirs1057516218
HLIrs1057516218
Exacrs1057516218
Gnomadrs1057516218
Varsomers1057516218
Maprs1057516218
PheGenIrs1057516218
Biobankrs1057516218
1000 genomesrs1057516218
hgdprs1057516218
ensemblrs1057516218
gopubmedrs1057516218
geneviewrs1057516218
scholarrs1057516218
googlers1057516218
pharmgkbrs1057516218
gwascentralrs1057516218
openSNPrs1057516218
23andMers1057516218
23andMe allrs1057516218
SNPshotrs1057516218
SNPdbers1057516218
MSV3drs1057516218
GWAS Ctlgrs1057516218
Max Magnitude0
ClinVar
Risk rs1057516218(-;-)
Alt rs1057516218(-;-)
Reference Rs1057516218(GG;GG)
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.183192383_183192384delGG
CLNSRC
CLNACC RCV000409946.1,