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rs371267954

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs371267954(C;C)
Make rs371267954(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209650120
GeneLAMB3
is asnp
is mentioned by
dbSNPrs371267954
ebirs371267954
HLIrs371267954
Exacrs371267954
Varsomers371267954
Maprs371267954
PheGenIrs371267954
hapmaprs371267954
1000 genomesrs371267954
hgdprs371267954
ensemblrs371267954
gopubmedrs371267954
geneviewrs371267954
scholarrs371267954
googlers371267954
pharmgkbrs371267954
gwascentralrs371267954
openSNPrs371267954
23andMers371267954
23andMe allrs371267954
SNP Nexus

SNPshotrs371267954
SNPdbers371267954
MSV3drs371267954
GWAS Ctlgrs371267954
Max Magnitude0
ClinVar
Risk rs371267954(C;C)
Alt rs371267954(C;C)
Reference rs371267954(T;T)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMB3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.209823465T>C
CLNSRC
CLNACC RCV000169049.1,