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rs864309672

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309672(A;A)
Make rs864309672(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143933998
GenePLEC
is asnp
is mentioned by
dbSNPrs864309672
ebirs864309672
HLIrs864309672
Exacrs864309672
Varsomers864309672
Maprs864309672
PheGenIrs864309672
hapmaprs864309672
1000 genomesrs864309672
hgdprs864309672
ensemblrs864309672
gopubmedrs864309672
geneviewrs864309672
scholarrs864309672
googlers864309672
pharmgkbrs864309672
gwascentralrs864309672
openSNPrs864309672
23andMers864309672
23andMe allrs864309672
SNP Nexus

SNPshotrs864309672
SNPdbers864309672
MSV3drs864309672
GWAS Ctlgrs864309672
Max Magnitude0
ClinVar
Risk rs864309672(A;A)
Alt rs864309672(A;A)
Reference rs864309672(G;G)
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.145008166C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008754.5,