rs121909227

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 rs121909227(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87957858

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909227
dbSNP (classic)	rs121909227
ClinGen	rs121909227
ebi	rs121909227
HLI	rs121909227
Exac	rs121909227
Gnomad	rs121909227
Varsome	rs121909227
LitVar	rs121909227
Map	rs121909227
PheGenI	rs121909227
Biobank	rs121909227
1000 genomes	rs121909227
hgdp	rs121909227
ensembl	rs121909227
geneview	rs121909227
scholar	rs121909227
google	rs121909227
pharmgkb	rs121909227
gwascentral	rs121909227
openSNP	rs121909227
23andMe	rs121909227
SNPshot	rs121909227
SNPdbe	rs121909227
MSV3d	rs121909227
GWAS Ctlg	rs121909227

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121909227(T;T)
Alt	rs121909227(T;T)
Reference	Rs121909227(C;C)
Significance	Pathogenic
Disease	Bannayan-Riley-Ruvalcaba syndrome Macrocephaly/autism syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTEN
CLNDBN	Bannayan-Riley-Ruvalcaba syndrome Macrocephaly/autism syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000010.10:g.89717615C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008273.3, RCV000416592.1, RCV000491311.1,