rs371418985
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs371418985(C;T) |
Make rs371418985(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28695737 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs371418985 |
dbSNP (classic) | rs371418985 |
ClinGen | rs371418985 |
ebi | rs371418985 |
HLI | rs371418985 |
Exac | rs371418985 |
Gnomad | rs371418985 |
Varsome | rs371418985 |
LitVar | rs371418985 |
Map | rs371418985 |
PheGenI | rs371418985 |
Biobank | rs371418985 |
1000 genomes | rs371418985 |
hgdp | rs371418985 |
ensembl | rs371418985 |
geneview | rs371418985 |
scholar | rs371418985 |
rs371418985 | |
pharmgkb | rs371418985 |
gwascentral | rs371418985 |
openSNP | rs371418985 |
23andMe | rs371418985 |
SNPshot | rs371418985 |
SNPdbe | rs371418985 |
MSV3d | rs371418985 |
GWAS Ctlg | rs371418985 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371418985(T;T) |
Alt | rs371418985(T;T) |
Reference | Rs371418985(C;C) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Variation | info |
Gene | CHEK2 |
CLNDBN | not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000022.10:g.29091725C>T |
CLNSRC | |
CLNACC | RCV000220219.2, RCV000448496.2, RCV000465371.1, |