rs121909240

Orientation

plus

Stabilized

plus

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

Make rs121909240(C;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87957940

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909240
dbSNP (classic)	rs121909240
ClinGen	rs121909240
ebi	rs121909240
HLI	rs121909240
Exac	rs121909240
Gnomad	rs121909240
Varsome	rs121909240
LitVar	rs121909240
Map	rs121909240
PheGenI	rs121909240
Biobank	rs121909240
1000 genomes	rs121909240
hgdp	rs121909240
ensembl	rs121909240
geneview	rs121909240
scholar	rs121909240
google	rs121909240
pharmgkb	rs121909240
gwascentral	rs121909240
openSNP	rs121909240
23andMe	rs121909240
SNPshot	rs121909240
SNPdbe	rs121909240
MSV3d	rs121909240
GWAS Ctlg	rs121909240

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0039
Related	also

ClinVar
Risk	rs121909240(C;C)
Alt	rs121909240(C;C)
Reference	Rs121909240(T;T)
Significance	Pathogenic
Disease	Macrocephaly/autism syndrome
Variation	info
Gene	PTEN
CLNDBN	Macrocephaly/autism syndrome
Reversed	0
HGVS	NC_000010.10:g.89717697T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008300.3,