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rs121912486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912486(C;C)
Make rs121912486(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209633102
GeneLAMB3
is asnp
is mentioned by
dbSNPrs121912486
ebirs121912486
HLIrs121912486
Exacrs121912486
Varsomers121912486
Maprs121912486
PheGenIrs121912486
hapmaprs121912486
1000 genomesrs121912486
hgdprs121912486
ensemblrs121912486
gopubmedrs121912486
geneviewrs121912486
scholarrs121912486
googlers121912486
pharmgkbrs121912486
gwascentralrs121912486
openSNPrs121912486
23andMers121912486
23andMe allrs121912486
SNP Nexus

SNPshotrs121912486
SNPdbers121912486
MSV3drs121912486
GWAS Ctlgrs121912486
Max Magnitude0
OMIM150310
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912486(C;C)
Alt rs121912486(C;C)
Reference rs121912486(G;G)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMB3
CLNDBN Adult junctional epidermolysis bullosa
Reversed 1
HGVS NC_000001.10:g.209806447C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015651.5,