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rs1060499581

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499581(C;T)
Make rs1060499581(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position143934427
GenePLEC
is asnp
is mentioned by
dbSNPrs1060499581
dbSNP (old)rs1060499581
ClinGenrs1060499581
ebirs1060499581
HLIrs1060499581
Exacrs1060499581
Gnomadrs1060499581
Varsomers1060499581
Maprs1060499581
PheGenIrs1060499581
Biobankrs1060499581
1000 genomesrs1060499581
hgdprs1060499581
ensemblrs1060499581
gopubmedrs1060499581
geneviewrs1060499581
scholarrs1060499581
googlers1060499581
pharmgkbrs1060499581
gwascentralrs1060499581
openSNPrs1060499581
23andMers1060499581
23andMe allrs1060499581
SNPshotrs1060499581
SNPdbers1060499581
MSV3drs1060499581
GWAS Ctlgrs1060499581
Max Magnitude0
ClinVar
Risk rs1060499581(T;T)
Alt rs1060499581(T;T)
Reference Rs1060499581(C;C)
Significance Probable-Pathogenic
Disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex Limb-girdle muscular dystrophy
Variation info
Gene PLEC
CLNDBN Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Ogna type Limb-girdle muscular dystrophy, type 2Q
Reversed 1
HGVS NC_000008.10:g.145008595G>A
CLNSRC
CLNACC RCV000477758.1,