rs730881647
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TGTG) | 6 | Ovarian cancer susceptibility |
Make rs730881647(TGTG;TGTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 61799235 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs730881647 |
dbSNP (classic) | rs730881647 |
ClinGen | rs730881647 |
ebi | rs730881647 |
HLI | rs730881647 |
Exac | rs730881647 |
Gnomad | rs730881647 |
Varsome | rs730881647 |
LitVar | rs730881647 |
Map | rs730881647 |
PheGenI | rs730881647 |
Biobank | rs730881647 |
1000 genomes | rs730881647 |
hgdp | rs730881647 |
ensembl | rs730881647 |
geneview | rs730881647 |
scholar | rs730881647 |
rs730881647 | |
pharmgkb | rs730881647 |
gwascentral | rs730881647 |
openSNP | rs730881647 |
23andMe | rs730881647 |
SNPshot | rs730881647 |
SNPdbe | rs730881647 |
MSV3d | rs730881647 |
GWAS Ctlg | rs730881647 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881647(TGTG;TGTG) |
Alt | rs730881647(TGTG;TGTG) |
Reference | Rs730881647(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast Fanconi anemia |
Variation | info |
Gene | BRIP1 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast Fanconi anemia, complementation group J |
Reversed | 1 |
HGVS | NC_000017.10:g.59876597_59876600dupCACA |
CLNSRC | |
CLNACC | RCV000160360.3, RCV000212306.1, RCV000231997.1, |