rs121909221

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	6.3	Bannayan-Riley-Ruvalcaba syndrome
(T;T)	0	common in clinvar

Make rs121909221(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

87952135

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs121909221
dbSNP (classic)	rs121909221
ClinGen	rs121909221
ebi	rs121909221
HLI	rs121909221
Exac	rs121909221
Gnomad	rs121909221
Varsome	rs121909221
LitVar	rs121909221
Map	rs121909221
PheGenI	rs121909221
Biobank	rs121909221
1000 genomes	rs121909221
hgdp	rs121909221
ensembl	rs121909221
geneview	rs121909221
scholar	rs121909221
google	rs121909221
pharmgkb	rs121909221
gwascentral	rs121909221
openSNP	rs121909221
23andMe	rs121909221
SNPshot	rs121909221
SNPdbe	rs121909221
MSV3d	rs121909221
GWAS Ctlg	rs121909221

Max Magnitude

6.3

OMIM	601728
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909221(A;A)
Alt	rs121909221(A;A)
Reference	Rs121909221(T;T)
Significance	Pathogenic
Disease	Bannayan-Riley-Ruvalcaba syndrome
Variation	info
Gene	PTEN
CLNDBN	Bannayan-Riley-Ruvalcaba syndrome
Reversed	0
HGVS	NC_000010.10:g.89711892T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008259.4,