rs121909231

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 rs121909231(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87961095

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909231
dbSNP (classic)	rs121909231
ClinGen	rs121909231
ebi	rs121909231
HLI	rs121909231
Exac	rs121909231
Gnomad	rs121909231
Varsome	rs121909231
LitVar	rs121909231
Map	rs121909231
PheGenI	rs121909231
Biobank	rs121909231
1000 genomes	rs121909231
hgdp	rs121909231
ensembl	rs121909231
geneview	rs121909231
scholar	rs121909231
google	rs121909231
pharmgkb	rs121909231
gwascentral	rs121909231
openSNP	rs121909231
23andMe	rs121909231
SNPshot	rs121909231
SNPdbe	rs121909231
MSV3d	rs121909231
GWAS Ctlg	rs121909231

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121909231(T;T)
Alt	rs121909231(T;T)
Reference	Rs121909231(C;C)
Significance	Pathogenic
Disease	Bannayan-Riley-Ruvalcaba syndrome Proteus-like syndrome Cowden syndrome 1 not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly/autism syndrome Neoplasm of brain
Variation	info
Gene	PTEN
CLNDBN	Bannayan-Riley-Ruvalcaba syndrome Proteus-like syndrome Cowden syndrome 1 not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly/autism syndrome Neoplasm of brain
Reversed	0
HGVS	NC_000010.10:g.89720852C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000008279.3, RCV000008281.3, RCV000033179.3, RCV000078601.4, RCV000162409.4, RCV000197423.2, RCV000414819.1, RCV000437329.1,