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rs1057517395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517395(-;-)
Make rs1057517395(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position209629862
GeneLAMB3
is asnp
is mentioned by
dbSNPrs1057517395
dbSNP (classic)rs1057517395
ClinGenrs1057517395
ebirs1057517395
HLIrs1057517395
Exacrs1057517395
Gnomadrs1057517395
Varsomers1057517395
LitVarrs1057517395
Maprs1057517395
PheGenIrs1057517395
Biobankrs1057517395
1000 genomesrs1057517395
hgdprs1057517395
ensemblrs1057517395
geneviewrs1057517395
scholarrs1057517395
googlers1057517395
pharmgkbrs1057517395
gwascentralrs1057517395
openSNPrs1057517395
23andMers1057517395
23andMe allrs1057517395
SNPshotrs1057517395
SNPdbers1057517395
MSV3drs1057517395
GWAS Ctlgrs1057517395
Max Magnitude0
ClinVar
Risk rs1057517395(-;-)
Alt rs1057517395(-;-)
Reference Rs1057517395(A;A)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 1
HGVS NC_000001.10:g.209803207delT
CLNSRC
CLNACC RCV000410143.1,