rs397514559

Orientation

plus

Stabilized

plus

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

Make rs397514559(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87952125

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs397514559
dbSNP (classic)	rs397514559
ClinGen	rs397514559
ebi	rs397514559
HLI	rs397514559
Exac	rs397514559
Gnomad	rs397514559
Varsome	rs397514559
LitVar	rs397514559
Map	rs397514559
PheGenI	rs397514559
Biobank	rs397514559
1000 genomes	rs397514559
hgdp	rs397514559
ensembl	rs397514559
geneview	rs397514559
scholar	rs397514559
google	rs397514559
pharmgkb	rs397514559
gwascentral	rs397514559
openSNP	rs397514559
23andMe	rs397514559
SNPshot	rs397514559
SNPdbe	rs397514559
MSV3d	rs397514559
GWAS Ctlg	rs397514559

Max Magnitude

6.3

ClinVar
Risk	rs397514559(A;A)
Alt	rs397514559(A;A)
Reference	Rs397514559(C;C)
Significance	Pathogenic
Disease	Macrocephaly/autism syndrome
Variation	info
Gene	PTEN
CLNDBN	Macrocephaly/autism syndrome
Reversed	0
HGVS	NC_000010.10:g.89711882C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032872.4,