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rs137853161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853161(C;T)
Make rs137853161(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143920817
GenePLEC
is asnp
is mentioned by
dbSNPrs137853161
ebirs137853161
HLIrs137853161
Exacrs137853161
Varsomers137853161
Maprs137853161
PheGenIrs137853161
hapmaprs137853161
1000 genomesrs137853161
hgdprs137853161
ensemblrs137853161
gopubmedrs137853161
geneviewrs137853161
scholarrs137853161
googlers137853161
pharmgkbrs137853161
gwascentralrs137853161
openSNPrs137853161
23andMers137853161
23andMe allrs137853161
SNP Nexus

SNPshotrs137853161
SNPdbers137853161
MSV3drs137853161
GWAS Ctlgrs137853161
Max Magnitude0
OMIM601282
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853161(G,T;G,T)
Alt rs137853161(G,T;G,T)
Reference rs137853161(C;C)
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.144994985G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008755.5,