rs121909239

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6.3	Macrocephaly/autism syndrome

Make rs121909239(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87957973

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909239
dbSNP (classic)	rs121909239
ClinGen	rs121909239
ebi	rs121909239
HLI	rs121909239
Exac	rs121909239
Gnomad	rs121909239
Varsome	rs121909239
LitVar	rs121909239
Map	rs121909239
PheGenI	rs121909239
Biobank	rs121909239
1000 genomes	rs121909239
hgdp	rs121909239
ensembl	rs121909239
geneview	rs121909239
scholar	rs121909239
google	rs121909239
pharmgkb	rs121909239
gwascentral	rs121909239
openSNP	rs121909239
23andMe	rs121909239
SNPshot	rs121909239
SNPdbe	rs121909239
MSV3d	rs121909239
GWAS Ctlg	rs121909239

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0038
Related	also

ClinVar
Risk	rs121909239(G;G)
Alt	rs121909239(G;G)
Reference	Rs121909239(A;A)
Significance	Pathogenic
Disease	Macrocephaly/autism syndrome
Variation	info
Gene	PTEN
CLNDBN	Macrocephaly/autism syndrome
Reversed	0
HGVS	NC_000010.10:g.89717730A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008299.4,