rs756250205
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs756250205(A;A) |
Make rs756250205(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 28689191 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs756250205 |
dbSNP (classic) | rs756250205 |
ClinGen | rs756250205 |
ebi | rs756250205 |
HLI | rs756250205 |
Exac | rs756250205 |
Gnomad | rs756250205 |
Varsome | rs756250205 |
LitVar | rs756250205 |
Map | rs756250205 |
PheGenI | rs756250205 |
Biobank | rs756250205 |
1000 genomes | rs756250205 |
hgdp | rs756250205 |
ensembl | rs756250205 |
geneview | rs756250205 |
scholar | rs756250205 |
rs756250205 | |
pharmgkb | rs756250205 |
gwascentral | rs756250205 |
openSNP | rs756250205 |
23andMe | rs756250205 |
SNPshot | rs756250205 |
SNPdbe | rs756250205 |
MSV3d | rs756250205 |
GWAS Ctlg | rs756250205 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756250205(A;A) |
Alt | rs756250205(A;A) |
Reference | Rs756250205(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast not provided |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.29085179G>A |
CLNSRC | |
CLNACC | RCV000219822.1, RCV000469433.1, RCV000483345.1, |