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rs387906801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906801(C;T)
Make rs387906801(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143923841
GenePLEC
is asnp
is mentioned by
dbSNPrs387906801
ebirs387906801
HLIrs387906801
Exacrs387906801
Varsomers387906801
Maprs387906801
PheGenIrs387906801
hapmaprs387906801
1000 genomesrs387906801
hgdprs387906801
ensemblrs387906801
gopubmedrs387906801
geneviewrs387906801
scholarrs387906801
googlers387906801
pharmgkbrs387906801
gwascentralrs387906801
openSNPrs387906801
23andMers387906801
23andMe allrs387906801
SNP Nexus

SNPshotrs387906801
SNPdbers387906801
MSV3drs387906801
GWAS Ctlgrs387906801
Max Magnitude0
ClinVar
Risk rs387906801(T;T)
Alt rs387906801(T;T)
Reference rs387906801(C;C)
Significance Pathogenic
Disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Variation info
Gene PLEC
CLNDBN Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Reversed 1
HGVS NC_000008.10:g.144998009G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023091.8,