rs1057520900

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;T)	6.3	PTEN hamartoma tumor syndrome
(T;T)	0	common/normal

Make rs1057520900(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

87957893

Gene

PTEN

is a	snp
is	mentioned by
dbSNP	rs1057520900
dbSNP (classic)	rs1057520900
ClinGen	rs1057520900
ebi	rs1057520900
HLI	rs1057520900
Exac	rs1057520900
Gnomad	rs1057520900
Varsome	rs1057520900
LitVar	rs1057520900
Map	rs1057520900
PheGenI	rs1057520900
Biobank	rs1057520900
1000 genomes	rs1057520900
hgdp	rs1057520900
ensembl	rs1057520900
geneview	rs1057520900
scholar	rs1057520900
google	rs1057520900
pharmgkb	rs1057520900
gwascentral	rs1057520900
openSNP	rs1057520900
23andMe	rs1057520900
SNPshot	rs1057520900
SNPdbe	rs1057520900
MSV3d	rs1057520900
GWAS Ctlg	rs1057520900

Max Magnitude

6.3

PTEN gene, c.675T>G (p.Tyr225Ter); pathogenic in ClinVar for PTEN hamartoma tumor syndrome

note c.675T>C is likely to be a benign variant according to ClinVar

ClinVar
Risk	rs1057520900(C;C) rs1057520900(G;G)
Alt	rs1057520900(C;C) rs1057520900(G;G)
Reference	Rs1057520900(T;T)
Significance	Pathogenic
Disease	not specified PTEN hamartoma tumor syndrome not provided
Variation	info
Gene	PTEN
CLNDBN	not specified PTEN hamartoma tumor syndrome not provided
Reversed	0
HGVS	NC_000010.10:g.89717650T>C; NC_000010.10:g.89717650T>G
CLNSRC
CLNACC	RCV000442557.1, RCV000457859.1, RCV000484536.1,