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rs864309674

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309674(-;G)
Make rs864309674(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143917858
GenePLEC
is asnp
is mentioned by
dbSNPrs864309674
ClinGenrs864309674
ebirs864309674
HLIrs864309674
Exacrs864309674
Varsomers864309674
Maprs864309674
PheGenIrs864309674
hapmaprs864309674
1000 genomesrs864309674
hgdprs864309674
ensemblrs864309674
gopubmedrs864309674
geneviewrs864309674
scholarrs864309674
googlers864309674
pharmgkbrs864309674
gwascentralrs864309674
openSNPrs864309674
23andMers864309674
23andMe allrs864309674
SNP Nexus

SNPshotrs864309674
SNPdbers864309674
MSV3drs864309674
GWAS Ctlgrs864309674
Max Magnitude0
ClinVar
Risk rs864309674(G;G)
Alt rs864309674(G;G)
Reference Rs864309674(;)
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.144992027dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023090.7,