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rs1057516476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516476(-;-)
Make rs1057516476(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23904584
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516476
dbSNP (old)rs1057516476
ClinGenrs1057516476
ebirs1057516476
HLIrs1057516476
Exacrs1057516476
Gnomadrs1057516476
Varsomers1057516476
Maprs1057516476
PheGenIrs1057516476
Biobankrs1057516476
1000 genomesrs1057516476
hgdprs1057516476
ensemblrs1057516476
gopubmedrs1057516476
geneviewrs1057516476
scholarrs1057516476
googlers1057516476
pharmgkbrs1057516476
gwascentralrs1057516476
openSNPrs1057516476
23andMers1057516476
23andMe allrs1057516476
SNPshotrs1057516476
SNPdbers1057516476
MSV3drs1057516476
GWAS Ctlgrs1057516476
Max Magnitude0
ClinVar
Risk rs1057516476(-;-)
Alt rs1057516476(-;-)
Reference Rs1057516476(G;G)
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.21484548delG
CLNSRC
CLNACC RCV000409334.1,