rs111367604
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111367604(C;G) |
Make rs111367604(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 214728927 |
Gene | BARD1 |
is a | snp |
is | mentioned by |
dbSNP | rs111367604 |
dbSNP (classic) | rs111367604 |
ClinGen | rs111367604 |
ebi | rs111367604 |
HLI | rs111367604 |
Exac | rs111367604 |
Gnomad | rs111367604 |
Varsome | rs111367604 |
LitVar | rs111367604 |
Map | rs111367604 |
PheGenI | rs111367604 |
Biobank | rs111367604 |
1000 genomes | rs111367604 |
hgdp | rs111367604 |
ensembl | rs111367604 |
geneview | rs111367604 |
scholar | rs111367604 |
rs111367604 | |
pharmgkb | rs111367604 |
gwascentral | rs111367604 |
openSNP | rs111367604 |
23andMe | rs111367604 |
SNPshot | rs111367604 |
SNPdbe | rs111367604 |
MSV3d | rs111367604 |
GWAS Ctlg | rs111367604 |
Max Magnitude | 0 |
[PMID 23056176] Identification of Functional SNPs in BARD1 Gene and In Silico Analysis of Damaging SNPs: Based on Data Procured from dbSNP Database
ClinVar | |
---|---|
Risk | rs111367604(A;A) rs111367604(G;G) rs111367604(T;T) |
Alt | rs111367604(A;A) rs111367604(G;G) rs111367604(T;T) |
Reference | Rs111367604(C;C) |
Significance | Unknown |
Disease | not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
Variation | info |
Gene | BARD1 |
CLNDBN | not specified Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000002.11:g.215593651C>A; NC_000002.11:g.215593651C>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000482358.1, RCV000130659.3, RCV000474704.1, RCV000484351.1, |