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rs1057517272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517272(C;C)
Make rs1057517272(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23949764
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517272
dbSNP (old)rs1057517272
ClinGenrs1057517272
ebirs1057517272
HLIrs1057517272
Exacrs1057517272
Gnomadrs1057517272
Varsomers1057517272
LitVarrs1057517272
Maprs1057517272
PheGenIrs1057517272
Biobankrs1057517272
1000 genomesrs1057517272
hgdprs1057517272
ensemblrs1057517272
gopubmedrs1057517272
geneviewrs1057517272
scholarrs1057517272
googlers1057517272
pharmgkbrs1057517272
gwascentralrs1057517272
openSNPrs1057517272
23andMers1057517272
23andMe allrs1057517272
SNPshotrs1057517272
SNPdbers1057517272
MSV3drs1057517272
GWAS Ctlgrs1057517272
Max Magnitude0
ClinVar
Risk rs1057517272(C;C)
Alt rs1057517272(C;C)
Reference Rs1057517272(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.21529728G>C
CLNSRC
CLNACC RCV000412368.1,