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rs1057520900

From SNPedia

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


Make rs1057520900(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position87957893
GenePTEN
is asnp
is mentioned by
dbSNPrs1057520900
dbSNP (classic)rs1057520900
ClinGenrs1057520900
ebirs1057520900
HLIrs1057520900
Exacrs1057520900
Gnomadrs1057520900
Varsomers1057520900
LitVarrs1057520900
Maprs1057520900
PheGenIrs1057520900
Biobankrs1057520900
1000 genomesrs1057520900
hgdprs1057520900
ensemblrs1057520900
geneviewrs1057520900
scholarrs1057520900
googlers1057520900
pharmgkbrs1057520900
gwascentralrs1057520900
openSNPrs1057520900
23andMers1057520900
23andMe allrs1057520900
SNPshotrs1057520900
SNPdbers1057520900
MSV3drs1057520900
GWAS Ctlgrs1057520900
Max Magnitude6.3

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,