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rs1057517367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517367(-;-)
Make rs1057517367(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23882028
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517367
dbSNP (old)rs1057517367
ClinGenrs1057517367
ebirs1057517367
HLIrs1057517367
Exacrs1057517367
Gnomadrs1057517367
Varsomers1057517367
Maprs1057517367
PheGenIrs1057517367
Biobankrs1057517367
1000 genomesrs1057517367
hgdprs1057517367
ensemblrs1057517367
gopubmedrs1057517367
geneviewrs1057517367
scholarrs1057517367
googlers1057517367
pharmgkbrs1057517367
gwascentralrs1057517367
openSNPrs1057517367
23andMers1057517367
23andMe allrs1057517367
SNPshotrs1057517367
SNPdbers1057517367
MSV3drs1057517367
GWAS Ctlgrs1057517367
Max Magnitude0
ClinVar
Risk rs1057517367(-;-)
Alt rs1057517367(-;-)
Reference Rs1057517367(A;A)
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.21461992delA
CLNSRC
CLNACC RCV000409390.1,