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rs1057517314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517314(-;T)
Make rs1057517314(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23898812
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517314
dbSNP (old)rs1057517314
ClinGenrs1057517314
ebirs1057517314
HLIrs1057517314
Exacrs1057517314
Gnomadrs1057517314
Varsomers1057517314
Maprs1057517314
PheGenIrs1057517314
Biobankrs1057517314
1000 genomesrs1057517314
hgdprs1057517314
ensemblrs1057517314
gopubmedrs1057517314
geneviewrs1057517314
scholarrs1057517314
googlers1057517314
pharmgkbrs1057517314
gwascentralrs1057517314
openSNPrs1057517314
23andMers1057517314
23andMe allrs1057517314
SNPshotrs1057517314
SNPdbers1057517314
MSV3drs1057517314
GWAS Ctlgrs1057517314
Max Magnitude0
ClinVar
Risk rs1057517314(T;T)
Alt rs1057517314(T;T)
Reference Rs1057517314(-;-)
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.21478776dupT
CLNSRC
CLNACC RCV000412128.1,