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

rs1057517211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517211(-;G)
Make rs1057517211(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23939331
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517211
dbSNP (old)rs1057517211
ClinGenrs1057517211
ebirs1057517211
HLIrs1057517211
Exacrs1057517211
Gnomadrs1057517211
Varsomers1057517211
Maprs1057517211
PheGenIrs1057517211
Biobankrs1057517211
1000 genomesrs1057517211
hgdprs1057517211
ensemblrs1057517211
gopubmedrs1057517211
geneviewrs1057517211
scholarrs1057517211
googlers1057517211
pharmgkbrs1057517211
gwascentralrs1057517211
openSNPrs1057517211
23andMers1057517211
23andMe allrs1057517211
SNPshotrs1057517211
SNPdbers1057517211
MSV3drs1057517211
GWAS Ctlgrs1057517211
Max Magnitude0
ClinVar
Risk rs1057517211(G;G)
Alt rs1057517211(G;G)
Reference Rs1057517211(-;-)
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.21519295dupG
CLNSRC
CLNACC RCV000410054.1,