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rs1057516743

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516743(-;-)
Make rs1057516743(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23876344
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516743
dbSNP (old)rs1057516743
ClinGenrs1057516743
ebirs1057516743
HLIrs1057516743
Exacrs1057516743
Gnomadrs1057516743
Varsomers1057516743
Maprs1057516743
PheGenIrs1057516743
Biobankrs1057516743
1000 genomesrs1057516743
hgdprs1057516743
ensemblrs1057516743
gopubmedrs1057516743
geneviewrs1057516743
scholarrs1057516743
googlers1057516743
pharmgkbrs1057516743
gwascentralrs1057516743
openSNPrs1057516743
23andMers1057516743
23andMe allrs1057516743
SNPshotrs1057516743
SNPdbers1057516743
MSV3drs1057516743
GWAS Ctlgrs1057516743
Max Magnitude0
ClinVar
Risk rs1057516743(-;-)
Alt rs1057516743(-;-)
Reference Rs1057516743(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.21456308delG
CLNSRC
CLNACC RCV000412059.1,