rs1060502391
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060502391(-;-) |
Make rs1060502391(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 32337331 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502391 |
dbSNP (classic) | rs1060502391 |
ClinGen | rs1060502391 |
ebi | rs1060502391 |
HLI | rs1060502391 |
Exac | rs1060502391 |
Gnomad | rs1060502391 |
Varsome | rs1060502391 |
LitVar | rs1060502391 |
Map | rs1060502391 |
PheGenI | rs1060502391 |
Biobank | rs1060502391 |
1000 genomes | rs1060502391 |
hgdp | rs1060502391 |
ensembl | rs1060502391 |
geneview | rs1060502391 |
scholar | rs1060502391 |
rs1060502391 | |
pharmgkb | rs1060502391 |
gwascentral | rs1060502391 |
openSNP | rs1060502391 |
23andMe | rs1060502391 |
SNPshot | rs1060502391 |
SNPdbe | rs1060502391 |
MSV3d | rs1060502391 |
GWAS Ctlg | rs1060502391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502391(-;-) |
Alt | rs1060502391(-;-) |
Reference | Rs1060502391(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911468delA |
CLNSRC | |
CLNACC | RCV000475958.1, |