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rs786205253

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205253(-;-)
Make rs786205253(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143924195
GenePLEC
is asnp
is mentioned by
dbSNPrs786205253
ebirs786205253
HLIrs786205253
Exacrs786205253
Varsomers786205253
Maprs786205253
PheGenIrs786205253
hapmaprs786205253
1000 genomesrs786205253
hgdprs786205253
ensemblrs786205253
gopubmedrs786205253
geneviewrs786205253
scholarrs786205253
googlers786205253
pharmgkbrs786205253
gwascentralrs786205253
openSNPrs786205253
23andMers786205253
23andMe allrs786205253
SNP Nexus

SNPshotrs786205253
SNPdbers786205253
MSV3drs786205253
GWAS Ctlgrs786205253
Max Magnitude0
ClinVar
Risk rs786205253(;)
Alt rs786205253(;)
Reference rs786205253(C;C)
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.144998363delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008749.5,