rs121912662
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 7 | Li-Fraumeni Syndrome (predicted) |
(T;T) | 0 | common in clinvar |
Make rs121912662(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 7670678 |
Gene | TP53 |
is a | snp |
is | mentioned by |
dbSNP | rs121912662 |
dbSNP (classic) | rs121912662 |
ClinGen | rs121912662 |
ebi | rs121912662 |
HLI | rs121912662 |
Exac | rs121912662 |
Gnomad | rs121912662 |
Varsome | rs121912662 |
LitVar | rs121912662 |
Map | rs121912662 |
PheGenI | rs121912662 |
Biobank | rs121912662 |
1000 genomes | rs121912662 |
hgdp | rs121912662 |
ensembl | rs121912662 |
geneview | rs121912662 |
scholar | rs121912662 |
rs121912662 | |
pharmgkb | rs121912662 |
gwascentral | rs121912662 |
openSNP | rs121912662 |
23andMe | rs121912662 |
SNPshot | rs121912662 |
SNPdbe | rs121912662 |
MSV3d | rs121912662 |
GWAS Ctlg | rs121912662 |
Max Magnitude | 7 |
aka c.1031T>C, p.Leu344Pro or L344P
ClinVar | |
---|---|
Risk | rs121912662(C;C) |
Alt | rs121912662(C;C) |
Reference | Rs121912662(T;T) |
Significance | Pathogenic |
Disease | Li-Fraumeni syndrome 1 |
Variation | info |
Gene | TP53 |
CLNDBN | Li-Fraumeni syndrome 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.7573996A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013174.26, |