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rs786205252

From SNPedia

Orientationminus
Geno Mag Summary
(CAGGAGGCC;CAGGAGGCC) 0 common in clinvar
Make rs786205252(-;-)
Make rs786205252(-;CAGGAGGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143930152
GenePLEC
is asnp
is mentioned by
dbSNPrs786205252
ebirs786205252
HLIrs786205252
Exacrs786205252
Varsomers786205252
Maprs786205252
PheGenIrs786205252
hapmaprs786205252
1000 genomesrs786205252
hgdprs786205252
ensemblrs786205252
gopubmedrs786205252
geneviewrs786205252
scholarrs786205252
googlers786205252
pharmgkbrs786205252
gwascentralrs786205252
openSNPrs786205252
23andMers786205252
23andMe allrs786205252
SNP Nexus

SNPshotrs786205252
SNPdbers786205252
MSV3drs786205252
GWAS Ctlgrs786205252
Max Magnitude0
ClinVar
Risk rs786205252(;)
Alt rs786205252(;)
Reference rs786205252(CAGGAGGCC;CAGGAGGCC)
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.145004320_145004328delGGCCTCCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008748.5,