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

rs1057516444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516444(-;AA)
Make rs1057516444(AA;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183220880
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516444
dbSNP (old)rs1057516444
ClinGenrs1057516444
ebirs1057516444
HLIrs1057516444
Exacrs1057516444
Gnomadrs1057516444
Varsomers1057516444
Maprs1057516444
PheGenIrs1057516444
Biobankrs1057516444
1000 genomesrs1057516444
hgdprs1057516444
ensemblrs1057516444
gopubmedrs1057516444
geneviewrs1057516444
scholarrs1057516444
googlers1057516444
pharmgkbrs1057516444
gwascentralrs1057516444
openSNPrs1057516444
23andMers1057516444
23andMe allrs1057516444
SNPshotrs1057516444
SNPdbers1057516444
MSV3drs1057516444
GWAS Ctlgrs1057516444
Max Magnitude0
ClinVar
Risk rs1057516444(AA;AA)
Alt rs1057516444(AA;AA)
Reference Rs1057516444(-;-)
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.183190015_183190016insAA
CLNSRC
CLNACC RCV000410149.1,