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rs1057516280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516280(C;C)
Make rs1057516280(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23903127
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516280
dbSNP (old)rs1057516280
ClinGenrs1057516280
ebirs1057516280
HLIrs1057516280
Exacrs1057516280
Gnomadrs1057516280
Varsomers1057516280
Maprs1057516280
PheGenIrs1057516280
Biobankrs1057516280
1000 genomesrs1057516280
hgdprs1057516280
ensemblrs1057516280
gopubmedrs1057516280
geneviewrs1057516280
scholarrs1057516280
googlers1057516280
pharmgkbrs1057516280
gwascentralrs1057516280
openSNPrs1057516280
23andMers1057516280
23andMe allrs1057516280
SNPshotrs1057516280
SNPdbers1057516280
MSV3drs1057516280
GWAS Ctlgrs1057516280
Max Magnitude0
ClinVar
Risk rs1057516280(C;C)
Alt rs1057516280(C;C)
Reference Rs1057516280(T;T)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMA3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000018.9:g.21483091T>C
CLNSRC
CLNACC RCV000409246.1,