Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516675(G;G)
Make rs1057516675(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209637906
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057516675
dbSNP (old)rs1057516675
ClinGenrs1057516675
ebirs1057516675
HLIrs1057516675
Exacrs1057516675
Gnomadrs1057516675
Varsomers1057516675
Maprs1057516675
PheGenIrs1057516675
Biobankrs1057516675
1000 genomesrs1057516675
hgdprs1057516675
ensemblrs1057516675
gopubmedrs1057516675
geneviewrs1057516675
scholarrs1057516675
googlers1057516675
pharmgkbrs1057516675
gwascentralrs1057516675
openSNPrs1057516675
23andMers1057516675
23andMe allrs1057516675
SNPshotrs1057516675
SNPdbers1057516675
MSV3drs1057516675
GWAS Ctlgrs1057516675
Max Magnitude0
ClinVar
Risk rs1057516675(G;G)
Alt rs1057516675(G;G)
Reference Rs1057516675(T;T)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209811251A>C
CLNSRC
CLNACC RCV000411435.1,