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rs137852757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852757(C;T)
Make rs137852757(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23907639
GeneLAMA3
is asnp
is mentioned by
dbSNPrs137852757
ebirs137852757
HLIrs137852757
Exacrs137852757
Varsomers137852757
Maprs137852757
PheGenIrs137852757
hapmaprs137852757
1000 genomesrs137852757
hgdprs137852757
ensemblrs137852757
gopubmedrs137852757
geneviewrs137852757
scholarrs137852757
googlers137852757
pharmgkbrs137852757
gwascentralrs137852757
openSNPrs137852757
23andMers137852757
23andMe allrs137852757
SNP Nexus

SNPshotrs137852757
SNPdbers137852757
MSV3drs137852757
GWAS Ctlgrs137852757
Max Magnitude0
OMIM600805
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852757(T;T)
Alt rs137852757(T;T)
Reference rs137852757(C;C)
Significance 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.21487603C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009337.2,