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rs1057516279

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516279(A;A)
Make rs1057516279(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23909296
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516279
dbSNP (old)rs1057516279
ClinGenrs1057516279
ebirs1057516279
HLIrs1057516279
Exacrs1057516279
Gnomadrs1057516279
Varsomers1057516279
Maprs1057516279
PheGenIrs1057516279
Biobankrs1057516279
1000 genomesrs1057516279
hgdprs1057516279
ensemblrs1057516279
gopubmedrs1057516279
geneviewrs1057516279
scholarrs1057516279
googlers1057516279
pharmgkbrs1057516279
gwascentralrs1057516279
openSNPrs1057516279
23andMers1057516279
23andMe allrs1057516279
SNPshotrs1057516279
SNPdbers1057516279
MSV3drs1057516279
GWAS Ctlgrs1057516279
Max Magnitude0
ClinVar
Risk rs1057516279(A;A)
Alt rs1057516279(A;A)
Reference Rs1057516279(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.21489260G>A
CLNSRC
CLNACC RCV000411524.1,