rs730881700
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730881700(-;A) |
Make rs730881700(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 28695133 |
Gene | CHEK2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881700 |
dbSNP (classic) | rs730881700 |
ClinGen | rs730881700 |
ebi | rs730881700 |
HLI | rs730881700 |
Exac | rs730881700 |
Gnomad | rs730881700 |
Varsome | rs730881700 |
LitVar | rs730881700 |
Map | rs730881700 |
PheGenI | rs730881700 |
Biobank | rs730881700 |
1000 genomes | rs730881700 |
hgdp | rs730881700 |
ensembl | rs730881700 |
geneview | rs730881700 |
scholar | rs730881700 |
rs730881700 | |
pharmgkb | rs730881700 |
gwascentral | rs730881700 |
openSNP | rs730881700 |
23andMe | rs730881700 |
SNPshot | rs730881700 |
SNPdbe | rs730881700 |
MSV3d | rs730881700 |
GWAS Ctlg | rs730881700 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881700(A;A) |
Alt | rs730881700(A;A) |
Reference | Rs730881700(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Variation | info |
Gene | CHEK2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000022.10:g.29091122dupT |
CLNSRC | |
CLNACC | RCV000160450.5, RCV000212460.2, RCV000473927.1, |