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rs1057516584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516584(C;C)
Make rs1057516584(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23899067
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516584
dbSNP (old)rs1057516584
ClinGenrs1057516584
ebirs1057516584
HLIrs1057516584
Exacrs1057516584
Gnomadrs1057516584
Varsomers1057516584
LitVarrs1057516584
Maprs1057516584
PheGenIrs1057516584
Biobankrs1057516584
1000 genomesrs1057516584
hgdprs1057516584
ensemblrs1057516584
gopubmedrs1057516584
geneviewrs1057516584
scholarrs1057516584
googlers1057516584
pharmgkbrs1057516584
gwascentralrs1057516584
openSNPrs1057516584
23andMers1057516584
23andMe allrs1057516584
SNPshotrs1057516584
SNPdbers1057516584
MSV3drs1057516584
GWAS Ctlgrs1057516584
Max Magnitude0
ClinVar
Risk rs1057516584(C;C)
Alt rs1057516584(C;C)
Reference Rs1057516584(T;T)
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.21479031T>C
CLNSRC
CLNACC RCV000409185.1,