rs587782539
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Hereditary cancer-predisposing syndrome |
(G;G) | 0 | common in clinvar |
Make rs587782539(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 61686166 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587782539 |
dbSNP (classic) | rs587782539 |
ClinGen | rs587782539 |
ebi | rs587782539 |
HLI | rs587782539 |
Exac | rs587782539 |
Gnomad | rs587782539 |
Varsome | rs587782539 |
LitVar | rs587782539 |
Map | rs587782539 |
PheGenI | rs587782539 |
Biobank | rs587782539 |
1000 genomes | rs587782539 |
hgdp | rs587782539 |
ensembl | rs587782539 |
geneview | rs587782539 |
scholar | rs587782539 |
rs587782539 | |
pharmgkb | rs587782539 |
gwascentral | rs587782539 |
openSNP | rs587782539 |
23andMe | rs587782539 |
SNPshot | rs587782539 |
SNPdbe | rs587782539 |
MSV3d | rs587782539 |
GWAS Ctlg | rs587782539 |
Max Magnitude | 6 |
aka c.2576-1G>A
ClinVar | |
---|---|
Risk | rs587782539(A;A) |
Alt | rs587782539(A;A) |
Reference | Rs587782539(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRIP1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.59763527C>T |
CLNSRC | |
CLNACC | RCV000131744.2, |