rs121909223

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	6.3	Cowden syndrome
(G;T)	6.3	Cowden syndrome (PTEN hamartoma tumor syndrome)
(T;T)	0	common in clinvar

Make rs121909223(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87933129

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909223
dbSNP (classic)	rs121909223
ClinGen	rs121909223
ebi	rs121909223
HLI	rs121909223
Exac	rs121909223
Gnomad	rs121909223
Varsome	rs121909223
LitVar	rs121909223
Map	rs121909223
PheGenI	rs121909223
Biobank	rs121909223
1000 genomes	rs121909223
hgdp	rs121909223
ensembl	rs121909223
geneview	rs121909223
scholar	rs121909223
google	rs121909223
pharmgkb	rs121909223
gwascentral	rs121909223
openSNP	rs121909223
23andMe	rs121909223
SNPshot	rs121909223
SNPdbe	rs121909223
MSV3d	rs121909223
GWAS Ctlg	rs121909223

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909223(C;C) rs121909223(G;G)
Alt	rs121909223(C;C) rs121909223(G;G)
Reference	Rs121909223(T;T)
Significance	Pathogenic
Disease	Cowden syndrome 1 not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTEN
CLNDBN	Cowden syndrome 1 not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000010.10:g.89692886T>C; NC_000010.10:g.89692886T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008261.3, RCV000485809.1, RCV000165307.1,