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rs864309673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATGGCCGGC;ATGGCCGGC) 0 common in clinvar
Make rs864309673(-;-)
Make rs864309673(-;ATGGCCGGC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143973464
GenePLEC
is asnp
is mentioned by
dbSNPrs864309673
ClinGenrs864309673
ebirs864309673
HLIrs864309673
Exacrs864309673
Varsomers864309673
Maprs864309673
PheGenIrs864309673
hapmaprs864309673
1000 genomesrs864309673
hgdprs864309673
ensemblrs864309673
gopubmedrs864309673
geneviewrs864309673
scholarrs864309673
googlers864309673
pharmgkbrs864309673
gwascentralrs864309673
openSNPrs864309673
23andMers864309673
23andMe allrs864309673
SNP Nexus

SNPshotrs864309673
SNPdbers864309673
MSV3drs864309673
GWAS Ctlgrs864309673
Max Magnitude0
ClinVar
Risk rs864309673(-;-)
Alt rs864309673(-;-)
Reference Rs864309673(ATGGCCGGC;ATGGCCGGC)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene PLEC
CLNDBN Limb-girdle muscular dystrophy, type 2Q
Reversed 1
HGVS NC_000008.10:g.145047632_145047640delGCCGGCCAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023089.3,