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rs1057517023

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517023(G;T)
Make rs1057517023(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23876408
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517023
dbSNP (old)rs1057517023
ClinGenrs1057517023
ebirs1057517023
HLIrs1057517023
Exacrs1057517023
Gnomadrs1057517023
Varsomers1057517023
Maprs1057517023
PheGenIrs1057517023
Biobankrs1057517023
1000 genomesrs1057517023
hgdprs1057517023
ensemblrs1057517023
gopubmedrs1057517023
geneviewrs1057517023
scholarrs1057517023
googlers1057517023
pharmgkbrs1057517023
gwascentralrs1057517023
openSNPrs1057517023
23andMers1057517023
23andMe allrs1057517023
SNPshotrs1057517023
SNPdbers1057517023
MSV3drs1057517023
GWAS Ctlgrs1057517023
Max Magnitude0
ClinVar
Risk rs1057517023(T;T)
Alt rs1057517023(T;T)
Reference Rs1057517023(G;G)
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.21456372G>T
CLNSRC
CLNACC RCV000411213.1,