rs1057519368
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057519368(C;C) |
Make rs1057519368(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 87957958 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs1057519368 |
dbSNP (classic) | rs1057519368 |
ClinGen | rs1057519368 |
ebi | rs1057519368 |
HLI | rs1057519368 |
Exac | rs1057519368 |
Gnomad | rs1057519368 |
Varsome | rs1057519368 |
LitVar | rs1057519368 |
Map | rs1057519368 |
PheGenI | rs1057519368 |
Biobank | rs1057519368 |
1000 genomes | rs1057519368 |
hgdp | rs1057519368 |
ensembl | rs1057519368 |
geneview | rs1057519368 |
scholar | rs1057519368 |
rs1057519368 | |
pharmgkb | rs1057519368 |
gwascentral | rs1057519368 |
openSNP | rs1057519368 |
23andMe | rs1057519368 |
SNPshot | rs1057519368 |
SNPdbe | rs1057519368 |
MSV3d | rs1057519368 |
GWAS Ctlg | rs1057519368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519368(C;C) rs1057519368(G;G) |
Alt | rs1057519368(C;C) rs1057519368(G;G) |
Reference | Rs1057519368(T;T) |
Significance | Pathogenic |
Disease | Macrocephaly/autism syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Macrocephaly/autism syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89717715T>C; NC_000010.10:g.89717715T>G |
CLNSRC | |
CLNACC | RCV000416564.1, RCV000491091.1, |