rs797044631
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044631(-;CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC ) |
Make rs797044631(CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC ;CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC ) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43091783 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044631 |
dbSNP (classic) | rs797044631 |
ClinGen | rs797044631 |
ebi | rs797044631 |
HLI | rs797044631 |
Exac | rs797044631 |
Gnomad | rs797044631 |
Varsome | rs797044631 |
LitVar | rs797044631 |
Map | rs797044631 |
PheGenI | rs797044631 |
Biobank | rs797044631 |
1000 genomes | rs797044631 |
hgdp | rs797044631 |
ensembl | rs797044631 |
geneview | rs797044631 |
scholar | rs797044631 |
rs797044631 | |
pharmgkb | rs797044631 |
gwascentral | rs797044631 |
openSNP | rs797044631 |
23andMe | rs797044631 |
SNPshot | rs797044631 |
SNPdbe | rs797044631 |
MSV3d | rs797044631 |
GWAS Ctlg | rs797044631 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044631(CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC;CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC) |
Alt | rs797044631(CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC;CAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC) |
Reference | Rs797044631(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41243800_41243801insGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG |
CLNSRC | |
CLNACC | RCV000173828.1, |