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rs1057516806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs1057516806(-;-)
Make rs1057516806(-;GACA)
Make rs1057516806(GACA;GACA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183207935
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516806
dbSNP (old)rs1057516806
ClinGenrs1057516806
ebirs1057516806
HLIrs1057516806
Exacrs1057516806
Gnomadrs1057516806
Varsomers1057516806
Maprs1057516806
PheGenIrs1057516806
Biobankrs1057516806
1000 genomesrs1057516806
hgdprs1057516806
ensemblrs1057516806
gopubmedrs1057516806
geneviewrs1057516806
scholarrs1057516806
googlers1057516806
pharmgkbrs1057516806
gwascentralrs1057516806
openSNPrs1057516806
23andMers1057516806
23andMe allrs1057516806
SNPshotrs1057516806
SNPdbers1057516806
MSV3drs1057516806
GWAS Ctlgrs1057516806
Max Magnitude0
ClinVar
Risk rs1057516806(-;-)
Alt rs1057516806(-;-)
Reference Rs1057516806(ACAG;ACAG)
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.183177070_183177073delGACA
CLNSRC
CLNACC RCV000412328.1,