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rs1057516605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516605(-;-)
Make rs1057516605(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23915321
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516605
dbSNP (old)rs1057516605
ClinGenrs1057516605
ebirs1057516605
HLIrs1057516605
Exacrs1057516605
Gnomadrs1057516605
Varsomers1057516605
Maprs1057516605
PheGenIrs1057516605
Biobankrs1057516605
1000 genomesrs1057516605
hgdprs1057516605
ensemblrs1057516605
gopubmedrs1057516605
geneviewrs1057516605
scholarrs1057516605
googlers1057516605
pharmgkbrs1057516605
gwascentralrs1057516605
openSNPrs1057516605
23andMers1057516605
23andMe allrs1057516605
SNPshotrs1057516605
SNPdbers1057516605
MSV3drs1057516605
GWAS Ctlgrs1057516605
Max Magnitude0
ClinVar
Risk rs1057516605(-;-)
Alt rs1057516605(-;-)
Reference Rs1057516605(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.21495285delA
CLNSRC
CLNACC RCV000412319.1,