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rs1057516512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516512(C;T)
Make rs1057516512(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23873135
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516512
dbSNP (old)rs1057516512
ClinGenrs1057516512
ebirs1057516512
HLIrs1057516512
Exacrs1057516512
Gnomadrs1057516512
Varsomers1057516512
LitVarrs1057516512
Maprs1057516512
PheGenIrs1057516512
Biobankrs1057516512
1000 genomesrs1057516512
hgdprs1057516512
ensemblrs1057516512
gopubmedrs1057516512
geneviewrs1057516512
scholarrs1057516512
googlers1057516512
pharmgkbrs1057516512
gwascentralrs1057516512
openSNPrs1057516512
23andMers1057516512
23andMe allrs1057516512
SNPshotrs1057516512
SNPdbers1057516512
MSV3drs1057516512
GWAS Ctlgrs1057516512
Max Magnitude0
ClinVar
Risk rs1057516512(T;T)
Alt rs1057516512(T;T)
Reference Rs1057516512(C;C)
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.21453099C>T
CLNSRC
CLNACC RCV000409262.1,