rs121909236

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3.9	VATER association with macrocephaly and ventriculomegaly; PTEN syndrome?
(G;G)	6.6	Vater association with macrocephaly and ventriculomegaly; PTEN related disorder though?

Reference

GRCh38 38.1/141

Chromosome

10

Position

87925529

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909236
dbSNP (classic)	rs121909236
ClinGen	rs121909236
ebi	rs121909236
HLI	rs121909236
Exac	rs121909236
Gnomad	rs121909236
Varsome	rs121909236
LitVar	rs121909236
Map	rs121909236
PheGenI	rs121909236
Biobank	rs121909236
1000 genomes	rs121909236
hgdp	rs121909236
ensembl	rs121909236
geneview	rs121909236
scholar	rs121909236
google	rs121909236
pharmgkb	rs121909236
gwascentral	rs121909236
openSNP	rs121909236
23andMe	rs121909236
SNPshot	rs121909236
SNPdbe	rs121909236
MSV3d	rs121909236
GWAS Ctlg	rs121909236

Max Magnitude

6.6

OMIM	601728
Desc
Variant	0030
Related	also

ClinVar
Risk	Rs121909236(G;G)
Alt	Rs121909236(G;G)
Reference	Rs121909236(C;C)
Significance	Pathogenic
Disease	Vater association with macrocephaly and ventriculomegaly
Variation	info
Gene	PTEN
CLNDBN	Vater association with macrocephaly and ventriculomegaly
Reversed	0
HGVS	NC_000010.10:g.89685286C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008290.2,