rs121909224

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	6.3	Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome

Make rs121909224(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87933147

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909224
dbSNP (classic)	rs121909224
ClinGen	rs121909224
ebi	rs121909224
HLI	rs121909224
Exac	rs121909224
Gnomad	rs121909224
Varsome	rs121909224
LitVar	rs121909224
Map	rs121909224
PheGenI	rs121909224
Biobank	rs121909224
1000 genomes	rs121909224
hgdp	rs121909224
ensembl	rs121909224
geneview	rs121909224
scholar	rs121909224
google	rs121909224
pharmgkb	rs121909224
gwascentral	rs121909224
openSNP	rs121909224
23andMe	rs121909224
SNPshot	rs121909224
SNPdbe	rs121909224
MSV3d	rs121909224
GWAS Ctlg	rs121909224

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909224(G;G) rs121909224(T;T)
Alt	rs121909224(G;G) rs121909224(T;T)
Reference	Rs121909224(C;C)
Significance	Pathogenic
Disease	Renal cell carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Uterine Carcinosarcoma Adenocarcinoma of prostate Glioblastoma Malignant tumor of floor of mouth Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Ovarian Neoplasms Colorectal Neoplasms Squamous cell carcinoma of lung Small cell lung cancer Neoplasm of breast Adenocarcinoma of stomach Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome Macrocephaly/autism syndrome not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Neoplasm of brain
Variation	info
Gene	PTEN
CLNDBN	Renal cell carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Uterine Carcinosarcoma Adenocarcinoma of prostate Glioblastoma Malignant tumor of floor of mouth Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Ovarian Neoplasms Colorectal Neoplasms Squamous cell carcinoma of lung Small cell lung cancer Neoplasm of breast Adenocarcinoma of stomach Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome Macrocephaly/autism syndrome not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Neoplasm of brain
Reversed	0
HGVS	NC_000010.10:g.89692904C>G; NC_000010.10:g.89692904C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000417737.1, RCV000422318.1, RCV000423355.1, RCV000423561.1, RCV000425625.1, RCV000430748.1, RCV000431010.1, RCV000433015.1, RCV000433261.1, RCV000434958.1, RCV000435427.1, RCV000440613.1, RCV000441747.1, RCV000443803.1, RCV000444349.1, RCV000008263.5, RCV000008264.4, RCV000008265.4, RCV000078615.3, RCV000132187.5, RCV000199099.3, RCV000424529.1, RCV000443514.1,