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rs1057516688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1057516688(-;-)
Make rs1057516688(-;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23899431
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516688
dbSNP (old)rs1057516688
ClinGenrs1057516688
ebirs1057516688
HLIrs1057516688
Exacrs1057516688
Gnomadrs1057516688
Varsomers1057516688
Maprs1057516688
PheGenIrs1057516688
Biobankrs1057516688
1000 genomesrs1057516688
hgdprs1057516688
ensemblrs1057516688
gopubmedrs1057516688
geneviewrs1057516688
scholarrs1057516688
googlers1057516688
pharmgkbrs1057516688
gwascentralrs1057516688
openSNPrs1057516688
23andMers1057516688
23andMe allrs1057516688
SNPshotrs1057516688
SNPdbers1057516688
MSV3drs1057516688
GWAS Ctlgrs1057516688
Max Magnitude0
ClinVar
Risk rs1057516688(-;-)
Alt rs1057516688(-;-)
Reference Rs1057516688(GC;GC)
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.21479395_21479396delGC
CLNSRC
CLNACC RCV000409897.1,