Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908389(A;G)
Make rs121908389(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50791689
GeneCYLD, LOC105371251
is asnp
is mentioned by
dbSNPrs121908389
dbSNP (classic)rs121908389
ClinGenrs121908389
ebirs121908389
HLIrs121908389
Exacrs121908389
Gnomadrs121908389
Varsomers121908389
LitVarrs121908389
Maprs121908389
PheGenIrs121908389
Biobankrs121908389
1000 genomesrs121908389
hgdprs121908389
ensemblrs121908389
geneviewrs121908389
scholarrs121908389
googlers121908389
pharmgkbrs121908389
gwascentralrs121908389
openSNPrs121908389
23andMers121908389
SNPshotrs121908389
SNPdbers121908389
MSV3drs121908389
GWAS Ctlgrs121908389
Max Magnitude0
OMIM605018
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908389(G;G)
Alt rs121908389(G;G)
Reference Rs121908389(A;A)
Significance Pathogenic
Disease Familial multiple trichoepitheliomata Spiegler-Brooke syndrome
Variation info
Gene CYLD
CLNDBN Familial multiple trichoepitheliomata Spiegler-Brooke syndrome
Reversed 0
HGVS NC_000016.9:g.50825600A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005571.2, RCV000005572.2,