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rs121918354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918354(C;T)
Make rs121918354(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position201317635
GenePKP1
is asnp
is mentioned by
dbSNPrs121918354
ebirs121918354
HLIrs121918354
Exacrs121918354
Varsomers121918354
Maprs121918354
PheGenIrs121918354
hapmaprs121918354
1000 genomesrs121918354
hgdprs121918354
ensemblrs121918354
gopubmedrs121918354
geneviewrs121918354
scholarrs121918354
googlers121918354
pharmgkbrs121918354
gwascentralrs121918354
openSNPrs121918354
23andMers121918354
23andMe allrs121918354
SNP Nexus

SNPshotrs121918354
SNPdbers121918354
MSV3drs121918354
GWAS Ctlgrs121918354
Max Magnitude0
OMIM601975
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918354(T;T)
Alt rs121918354(T;T)
Reference rs121918354(C;C)
Significance Pathogenic
Disease Ectodermal dysplasia skin fragility syndrome
Variation info
Gene PKP1
CLNDBN Ectodermal dysplasia skin fragility syndrome
Reversed 0
HGVS NC_000001.10:g.201286763C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008041.2,