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rs1057516475

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516475(A;G)
Make rs1057516475(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23881934
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516475
dbSNP (old)rs1057516475
ClinGenrs1057516475
ebirs1057516475
HLIrs1057516475
Exacrs1057516475
Gnomadrs1057516475
Varsomers1057516475
Maprs1057516475
PheGenIrs1057516475
Biobankrs1057516475
1000 genomesrs1057516475
hgdprs1057516475
ensemblrs1057516475
gopubmedrs1057516475
geneviewrs1057516475
scholarrs1057516475
googlers1057516475
pharmgkbrs1057516475
gwascentralrs1057516475
openSNPrs1057516475
23andMers1057516475
23andMe allrs1057516475
SNPshotrs1057516475
SNPdbers1057516475
MSV3drs1057516475
GWAS Ctlgrs1057516475
Max Magnitude0
ClinVar
Risk rs1057516475(G;G)
Alt rs1057516475(G;G)
Reference Rs1057516475(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.21461898A>G
CLNSRC
CLNACC RCV000411301.1,