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rs864309671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGGCCGTCACCAGG;AGGCCGTCACCAGG) 0 common in clinvar
Make rs864309671(-;-)
Make rs864309671(-;GAGGCCGTCACCAG)
Make rs864309671(GAGGCCGTCACCAG;GAGGCCGTCACCAG)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143930144
GenePLEC
is asnp
is mentioned by
dbSNPrs864309671
dbSNP (old)rs864309671
ClinGenrs864309671
ebirs864309671
HLIrs864309671
Exacrs864309671
Gnomadrs864309671
Varsomers864309671
Maprs864309671
PheGenIrs864309671
Biobankrs864309671
1000 genomesrs864309671
hgdprs864309671
ensemblrs864309671
gopubmedrs864309671
geneviewrs864309671
scholarrs864309671
googlers864309671
pharmgkbrs864309671
gwascentralrs864309671
openSNPrs864309671
23andMers864309671
23andMe allrs864309671
SNP Nexus

SNPshotrs864309671
SNPdbers864309671
MSV3drs864309671
GWAS Ctlgrs864309671
Max Magnitude0
ClinVar
Risk rs864309671(-;-)
Alt rs864309671(-;-)
Reference Rs864309671(AGGCCGTCACCAGG;AGGCCGTCACCAGG)
Significance Pathogenic
Disease Epidermolysis bullosa simplex with pyloric atresia
Variation info
Gene PLEC
CLNDBN Epidermolysis bullosa simplex with pyloric atresia
Reversed 1
HGVS NC_000008.10:g.145004312_145004325delCTGGTGACGGCCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008752.6,