rs587781707
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587781707(C;G) |
Make rs587781707(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 214752472 |
Gene | BARD1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781707 |
dbSNP (classic) | rs587781707 |
ClinGen | rs587781707 |
ebi | rs587781707 |
HLI | rs587781707 |
Exac | rs587781707 |
Gnomad | rs587781707 |
Varsome | rs587781707 |
LitVar | rs587781707 |
Map | rs587781707 |
PheGenI | rs587781707 |
Biobank | rs587781707 |
1000 genomes | rs587781707 |
hgdp | rs587781707 |
ensembl | rs587781707 |
geneview | rs587781707 |
scholar | rs587781707 |
rs587781707 | |
pharmgkb | rs587781707 |
gwascentral | rs587781707 |
openSNP | rs587781707 |
23andMe | rs587781707 |
SNPshot | rs587781707 |
SNPdbe | rs587781707 |
MSV3d | rs587781707 |
GWAS Ctlg | rs587781707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781707(G;G) rs587781707(T;T) |
Alt | rs587781707(G;G) rs587781707(T;T) |
Reference | Rs587781707(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast not specified Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BARD1 |
CLNDBN | Familial cancer of breast not specified Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.215617196G>A; NC_000002.11:g.215617196G>C |
CLNSRC | |
CLNACC | RCV000205925.1, RCV000480294.1, RCV000129880.5, RCV000206283.3, RCV000212133.1, |