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rs137852758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852758(C;T)
Make rs137852758(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23939322
GeneLAMA3
is asnp
is mentioned by
dbSNPrs137852758
dbSNP (old)rs137852758
ClinGenrs137852758
ebirs137852758
HLIrs137852758
Exacrs137852758
Varsomers137852758
Maprs137852758
PheGenIrs137852758
Biobankrs137852758
1000 genomesrs137852758
hgdprs137852758
ensemblrs137852758
gopubmedrs137852758
geneviewrs137852758
scholarrs137852758
googlers137852758
pharmgkbrs137852758
gwascentralrs137852758
openSNPrs137852758
23andMers137852758
23andMe allrs137852758
SNP Nexus

SNPshotrs137852758
SNPdbers137852758
MSV3drs137852758
GWAS Ctlgrs137852758
Max Magnitude0
OMIM600805
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852758(T;T)
Alt rs137852758(T;T)
Reference Rs137852758(C;C)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMA3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 0
HGVS NC_000018.9:g.21519286C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009338.2,