Have questions? Visit https://www.reddit.com/r/SNPedia

rs879255260

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255260(C;T)
Make rs879255260(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position143933210
GenePLEC
is asnp
is mentioned by
dbSNPrs879255260
ebirs879255260
HLIrs879255260
Exacrs879255260
Varsomers879255260
Maprs879255260
PheGenIrs879255260
hapmaprs879255260
1000 genomesrs879255260
hgdprs879255260
ensemblrs879255260
gopubmedrs879255260
geneviewrs879255260
scholarrs879255260
googlers879255260
pharmgkbrs879255260
gwascentralrs879255260
openSNPrs879255260
23andMers879255260
23andMe allrs879255260
SNP Nexus

SNPshotrs879255260
SNPdbers879255260
MSV3drs879255260
GWAS Ctlgrs879255260
Max Magnitude0
ClinVar
Risk rs879255260(T;T)
Alt rs879255260(T;T)
Reference rs879255260(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa with pyloric atresia
Variation info
Gene PLEC
CLNDBN Epidermolysis bullosa with pyloric atresia
Reversed 1
HGVS NC_000008.10:g.145007378G>A
CLNSRC
CLNACC RCV000239385.1,