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

rs121909218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.3 Cowden syndrome
(G;G) 0 common in clinvar


Make rs121909218(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933145
GenePTEN
is asnp
is mentioned by
dbSNPrs121909218
dbSNP (classic)rs121909218
ClinGenrs121909218
ebirs121909218
HLIrs121909218
Exacrs121909218
Gnomadrs121909218
Varsomers121909218
LitVarrs121909218
Maprs121909218
PheGenIrs121909218
Biobankrs121909218
1000 genomesrs121909218
hgdprs121909218
ensemblrs121909218
geneviewrs121909218
scholarrs121909218
googlers121909218
pharmgkbrs121909218
gwascentralrs121909218
openSNPrs121909218
23andMers121909218
SNPshotrs121909218
SNPdbers121909218
MSV3drs121909218
GWAS Ctlgrs121909218
Max Magnitude6.3
OMIM601728
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909218(A;A)
Alt rs121909218(A;A)
Reference Rs121909218(G;G)
Significance Pathogenic
Disease Cowden syndrome 1 not provided PTEN hamartoma tumor syndrome
Variation info
Gene PTEN
CLNDBN Cowden syndrome 1 not provided PTEN hamartoma tumor syndrome
Reversed 0
HGVS NC_000010.10:g.89692902G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008255.4, RCV000413815.1, RCV000490577.1,