rs587781948
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587781948(C;T) |
Make rs587781948(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 214730491 |
Gene | BARD1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781948 |
dbSNP (classic) | rs587781948 |
ClinGen | rs587781948 |
ebi | rs587781948 |
HLI | rs587781948 |
Exac | rs587781948 |
Gnomad | rs587781948 |
Varsome | rs587781948 |
LitVar | rs587781948 |
Map | rs587781948 |
PheGenI | rs587781948 |
Biobank | rs587781948 |
1000 genomes | rs587781948 |
hgdp | rs587781948 |
ensembl | rs587781948 |
geneview | rs587781948 |
scholar | rs587781948 |
rs587781948 | |
pharmgkb | rs587781948 |
gwascentral | rs587781948 |
openSNP | rs587781948 |
23andMe | rs587781948 |
SNPshot | rs587781948 |
SNPdbe | rs587781948 |
MSV3d | rs587781948 |
GWAS Ctlg | rs587781948 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781948(T;T) |
Alt | rs587781948(T;T) |
Reference | Rs587781948(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast not provided |
Variation | info |
Gene | BARD1 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.215595215G>A |
CLNSRC | |
CLNACC | RCV000130318.3, RCV000234673.2, RCV000236005.1, |