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rs137853160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853160(C;T)
Make rs137853160(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143934923
GenePLEC
is asnp
is mentioned by
dbSNPrs137853160
ebirs137853160
HLIrs137853160
Exacrs137853160
Varsomers137853160
Maprs137853160
PheGenIrs137853160
hapmaprs137853160
1000 genomesrs137853160
hgdprs137853160
ensemblrs137853160
gopubmedrs137853160
geneviewrs137853160
scholarrs137853160
googlers137853160
pharmgkbrs137853160
gwascentralrs137853160
openSNPrs137853160
23andMers137853160
23andMe allrs137853160
SNP Nexus

SNPshotrs137853160
SNPdbers137853160
MSV3drs137853160
GWAS Ctlgrs137853160
Max Magnitude0
OMIM601282
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853160(T;T)
Alt rs137853160(T;T)
Reference rs137853160(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.145009091G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008753.5,