rs121909219

Orientation

plus

Stabilized

plus

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

Make rs121909219(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87957915

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909219
dbSNP (classic)	rs121909219
ClinGen	rs121909219
ebi	rs121909219
HLI	rs121909219
Exac	rs121909219
Gnomad	rs121909219
Varsome	rs121909219
LitVar	rs121909219
Map	rs121909219
PheGenI	rs121909219
Biobank	rs121909219
1000 genomes	rs121909219
hgdp	rs121909219
ensembl	rs121909219
geneview	rs121909219
scholar	rs121909219
google	rs121909219
pharmgkb	rs121909219
gwascentral	rs121909219
openSNP	rs121909219
23andMe	rs121909219
SNPshot	rs121909219
SNPdbe	rs121909219
MSV3d	rs121909219
GWAS Ctlg	rs121909219

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909219(T;T)
Alt	rs121909219(T;T)
Reference	Rs121909219(C;C)
Significance	Pathogenic
Disease	Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Colorectal Neoplasms Glioblastoma Non-small cell lung cancer Macrocephaly/autism syndrome
Variation	info
Gene	PTEN
CLNDBN	Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Colorectal Neoplasms Glioblastoma Non-small cell lung cancer Macrocephaly/autism syndrome
Reversed	0
HGVS	NC_000010.10:g.89717672C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008256.3, RCV000008257.3, RCV000128455.3, RCV000162649.4, RCV000212882.1, RCV000427583.1, RCV000434092.1, RCV000436969.1, RCV000444248.1, RCV000477737.1,