rs121909230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.3 | Lhermitte-Duclos disease |
(T;T) | 0 | common in clinvar |
Make rs121909230(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87933094 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121909230 |
dbSNP (classic) | rs121909230 |
ClinGen | rs121909230 |
ebi | rs121909230 |
HLI | rs121909230 |
Exac | rs121909230 |
Gnomad | rs121909230 |
Varsome | rs121909230 |
LitVar | rs121909230 |
Map | rs121909230 |
PheGenI | rs121909230 |
Biobank | rs121909230 |
1000 genomes | rs121909230 |
hgdp | rs121909230 |
ensembl | rs121909230 |
geneview | rs121909230 |
scholar | rs121909230 |
rs121909230 | |
pharmgkb | rs121909230 |
gwascentral | rs121909230 |
openSNP | rs121909230 |
23andMe | rs121909230 |
SNPshot | rs121909230 |
SNPdbe | rs121909230 |
MSV3d | rs121909230 |
GWAS Ctlg | rs121909230 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121909230(C;C) |
Alt | rs121909230(C;C) |
Reference | Rs121909230(T;T) |
Significance | Pathogenic |
Disease | Lhermitte-Duclos disease not provided |
Variation | info |
Gene | PTEN |
CLNDBN | Lhermitte-Duclos disease not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.89692851T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008278.3, RCV000304615.1, |