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rs1057517440

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517440(-;-)
Make rs1057517440(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23950092
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517440
dbSNP (old)rs1057517440
ClinGenrs1057517440
ebirs1057517440
HLIrs1057517440
Exacrs1057517440
Gnomadrs1057517440
Varsomers1057517440
Maprs1057517440
PheGenIrs1057517440
Biobankrs1057517440
1000 genomesrs1057517440
hgdprs1057517440
ensemblrs1057517440
gopubmedrs1057517440
geneviewrs1057517440
scholarrs1057517440
googlers1057517440
pharmgkbrs1057517440
gwascentralrs1057517440
openSNPrs1057517440
23andMers1057517440
23andMe allrs1057517440
SNPshotrs1057517440
SNPdbers1057517440
MSV3drs1057517440
GWAS Ctlgrs1057517440
Max Magnitude0
ClinVar
Risk rs1057517440(-;-)
Alt rs1057517440(-;-)
Reference Rs1057517440(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.21530056delC
CLNSRC
CLNACC RCV000410296.1,