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rs387906802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906802(C;T)
Make rs387906802(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143923055
GenePLEC
is asnp
is mentioned by
dbSNPrs387906802
ebirs387906802
HLIrs387906802
Exacrs387906802
Varsomers387906802
Maprs387906802
PheGenIrs387906802
hapmaprs387906802
1000 genomesrs387906802
hgdprs387906802
ensemblrs387906802
gopubmedrs387906802
geneviewrs387906802
scholarrs387906802
googlers387906802
pharmgkbrs387906802
gwascentralrs387906802
openSNPrs387906802
23andMers387906802
23andMe allrs387906802
SNP Nexus

SNPshotrs387906802
SNPdbers387906802
MSV3drs387906802
GWAS Ctlgrs387906802
Max Magnitude0
ClinVar
Risk rs387906802(T;T)
Alt rs387906802(T;T)
Reference rs387906802(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.144997223G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023092.7,