rs121913294

Orientation

plus

Stabilized

plus

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

Make rs121913294(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

87952143

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121913294
dbSNP (classic)	rs121913294
ClinGen	rs121913294
ebi	rs121913294
HLI	rs121913294
Exac	rs121913294
Gnomad	rs121913294
Varsome	rs121913294
LitVar	rs121913294
Map	rs121913294
PheGenI	rs121913294
Biobank	rs121913294
1000 genomes	rs121913294
hgdp	rs121913294
ensembl	rs121913294
geneview	rs121913294
scholar	rs121913294
google	rs121913294
pharmgkb	rs121913294
gwascentral	rs121913294
openSNP	rs121913294
23andMe	rs121913294
SNPshot	rs121913294
SNPdbe	rs121913294
MSV3d	rs121913294
GWAS Ctlg	rs121913294

Max Magnitude

6.3

ClinVar
Risk	rs121913294(A;A) rs121913294(C;C) rs121913294(T;T)
Alt	rs121913294(A;A) rs121913294(C;C) rs121913294(T;T)
Reference	Rs121913294(G;G)
Significance	Pathogenic
Disease	Neoplasm of brain not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTEN
CLNDBN	Neoplasm of brain not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000010.10:g.89711900G>A; NC_000010.10:g.89711900G>C; NC_000010.10:g.89711900G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000432256.1, RCV000484180.1, RCV000490595.1, RCV000164565.1, RCV000491092.1,