rs397507247
From SNPedia
Merged into | rs80357906 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 4 | linked to certain hereditary cancers |
Make rs397507247(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43057062 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507247 |
dbSNP (classic) | rs397507247 |
ClinGen | rs397507247 |
ebi | rs397507247 |
HLI | rs397507247 |
Exac | rs397507247 |
Gnomad | rs397507247 |
Varsome | rs397507247 |
LitVar | rs397507247 |
Map | rs397507247 |
PheGenI | rs397507247 |
Biobank | rs397507247 |
1000 genomes | rs397507247 |
hgdp | rs397507247 |
ensembl | rs397507247 |
geneview | rs397507247 |
scholar | rs397507247 |
rs397507247 | |
pharmgkb | rs397507247 |
gwascentral | rs397507247 |
openSNP | rs397507247 |
23andMe | rs397507247 |
SNPshot | rs397507247 |
SNPdbe | rs397507247 |
MSV3d | rs397507247 |
GWAS Ctlg | rs397507247 |
Status | Merged into rs80357906 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs397507247(C;C) |
Alt | rs397507247(C;C) |
Reference | Rs397507247(;) |
Significance | Other |
Disease | Breast-ovarian cancer Pancreatic cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41209082dupG |
CLNSRC | Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant |
CLNACC | RCV000019246.18, RCV000019247.3, RCV000056287.6, RCV000119097.6, RCV000131328.4, |