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rs370148688

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs370148688(C;C)
Make rs370148688(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position209633135
GeneLAMB3
is asnp
is mentioned by
dbSNPrs370148688
ebirs370148688
HLIrs370148688
Exacrs370148688
Varsomers370148688
Maprs370148688
PheGenIrs370148688
hapmaprs370148688
1000 genomesrs370148688
hgdprs370148688
ensemblrs370148688
gopubmedrs370148688
geneviewrs370148688
scholarrs370148688
googlers370148688
pharmgkbrs370148688
gwascentralrs370148688
openSNPrs370148688
23andMers370148688
23andMe allrs370148688
SNP Nexus

SNPshotrs370148688
SNPdbers370148688
MSV3drs370148688
GWAS Ctlgrs370148688
Max Magnitude0
ClinVar
Risk rs370148688(C;C)
Alt rs370148688(C;C)
Reference rs370148688(T;T)
Significance 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.209806480T>C
CLNSRC
CLNACC RCV000169196.1,