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rs786205254

From SNPedia

Orientationminus
Geno Mag Summary
(GGCGCGGC;GGCGCGGC) 0 common in clinvar
Make rs786205254(-;-)
Make rs786205254(-;GGCGCGGC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143924898
GenePLEC
is asnp
is mentioned by
dbSNPrs786205254
ebirs786205254
HLIrs786205254
Exacrs786205254
Varsomers786205254
Maprs786205254
PheGenIrs786205254
hapmaprs786205254
1000 genomesrs786205254
hgdprs786205254
ensemblrs786205254
gopubmedrs786205254
geneviewrs786205254
scholarrs786205254
googlers786205254
pharmgkbrs786205254
gwascentralrs786205254
openSNPrs786205254
23andMers786205254
23andMe allrs786205254
SNP Nexus

SNPshotrs786205254
SNPdbers786205254
MSV3drs786205254
GWAS Ctlgrs786205254
Max Magnitude0
ClinVar
Risk rs786205254(;)
Alt rs786205254(;)
Reference rs786205254(GGCGCGGC;GGCGCGGC)
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.144999066_144999073delGCCGCGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008750.6,