rs55716624
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 1.2 | BRCA2 variant likely to be benign |
Make rs55716624(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32356496 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs55716624 |
dbSNP (classic) | rs55716624 |
ClinGen | rs55716624 |
ebi | rs55716624 |
HLI | rs55716624 |
Exac | rs55716624 |
Gnomad | rs55716624 |
Varsome | rs55716624 |
LitVar | rs55716624 |
Map | rs55716624 |
PheGenI | rs55716624 |
Biobank | rs55716624 |
1000 genomes | rs55716624 |
hgdp | rs55716624 |
ensembl | rs55716624 |
geneview | rs55716624 |
scholar | rs55716624 |
rs55716624 | |
pharmgkb | rs55716624 |
gwascentral | rs55716624 |
openSNP | rs55716624 |
23andMe | rs55716624 |
SNPshot | rs55716624 |
SNPdbe | rs55716624 |
MSV3d | rs55716624 |
GWAS Ctlg | rs55716624 |
Max Magnitude | 1.2 |
aka c.7504C>T (p.Arg2502Cys); considered by most submitters to ClinVar to be a benign variant
23andMe name: i5009331
ClinVar | |
---|---|
Risk | rs55716624(T;T) |
Alt | rs55716624(T;T) |
Reference | Rs55716624(C;C) |
Significance | Other |
Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified |
Variation | info |
Gene | BRCA2 |
CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified |
Reversed | 0 |
HGVS | NC_000013.10:g.32930633C>T |
CLNSRC | Ambry Genetics ClinVar University of Washington |
CLNACC | RCV000034459.3, RCV000045233.5, RCV000077403.3, RCV000131136.3, RCV000148436.1, RCV000168602.7, |