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rs786205251

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205251(-;-)
Make rs786205251(-;GGAGATCC)
Make rs786205251(GGAGATCC;GGAGATCC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143924146
GenePLEC
is asnp
is mentioned by
dbSNPrs786205251
ebirs786205251
HLIrs786205251
Exacrs786205251
Varsomers786205251
Maprs786205251
PheGenIrs786205251
hapmaprs786205251
1000 genomesrs786205251
hgdprs786205251
ensemblrs786205251
gopubmedrs786205251
geneviewrs786205251
scholarrs786205251
googlers786205251
pharmgkbrs786205251
gwascentralrs786205251
openSNPrs786205251
23andMers786205251
23andMe allrs786205251
SNP Nexus

SNPshotrs786205251
SNPdbers786205251
MSV3drs786205251
GWAS Ctlgrs786205251
Max Magnitude0
ClinVar
Risk rs786205251(GGAGATCC;GGAGATCC)
Alt rs786205251(GGAGATCC;GGAGATCC)
Reference rs786205251(;)
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.144998315_144998322dupGGATCTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008747.6,