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rs121908390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908390(C;T)
Make rs121908390(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50796443
GeneCYLD
is asnp
is mentioned by
dbSNPrs121908390
ebirs121908390
HLIrs121908390
Exacrs121908390
Varsomers121908390
Maprs121908390
PheGenIrs121908390
hapmaprs121908390
1000 genomesrs121908390
hgdprs121908390
ensemblrs121908390
gopubmedrs121908390
geneviewrs121908390
scholarrs121908390
googlers121908390
pharmgkbrs121908390
gwascentralrs121908390
openSNPrs121908390
23andMers121908390
23andMe allrs121908390
SNP Nexus

SNPshotrs121908390
SNPdbers121908390
MSV3drs121908390
GWAS Ctlgrs121908390
Max Magnitude0
OMIM605018
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908390(G,T;G,T)
Alt rs121908390(G,T;G,T)
Reference rs121908390(C;C)
Significance Pathogenic
Disease Cylindromatosis Familial multiple trichoepitheliomata Spiegler-Brooke syndrome
Variation info
Gene CYLD
CLNDBN Cylindromatosis, familial Familial multiple trichoepitheliomata Spiegler-Brooke syndrome
Reversed 0
HGVS NC_000016.9:g.50830354C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005573.2, RCV000005574.2, RCV000005575.2,