rs202004587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202004587(A;A) |
Make rs202004587(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 87931071 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs202004587 |
dbSNP (classic) | rs202004587 |
ClinGen | rs202004587 |
ebi | rs202004587 |
HLI | rs202004587 |
Exac | rs202004587 |
Gnomad | rs202004587 |
Varsome | rs202004587 |
LitVar | rs202004587 |
Map | rs202004587 |
PheGenI | rs202004587 |
Biobank | rs202004587 |
1000 genomes | rs202004587 |
hgdp | rs202004587 |
ensembl | rs202004587 |
geneview | rs202004587 |
scholar | rs202004587 |
rs202004587 | |
pharmgkb | rs202004587 |
gwascentral | rs202004587 |
openSNP | rs202004587 |
23andMe | rs202004587 |
SNPshot | rs202004587 |
SNPdbe | rs202004587 |
MSV3d | rs202004587 |
GWAS Ctlg | rs202004587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202004587(A;A) rs202004587(T;T) |
Alt | rs202004587(A;A) rs202004587(T;T) |
Reference | Rs202004587(G;G) |
Significance | Pathogenic |
Disease | not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Cowden syndrome 1 |
Variation | info |
Gene | PTEN |
CLNDBN | not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Cowden syndrome 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.89690828G>A; NC_000010.10:g.89690828G>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000034594.1, RCV000123046.4, RCV000129085.3, RCV000201317.2, RCV000409443.1, RCV000459127.1, |