rs863223784
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCCCCCGCCACCGGGGCGCATTG;TCCCCCGCCACCGGGGCGCATTG) | 0 | common in clinvar |
Make rs863223784(CCAGGA;CCAGGA) |
Make rs863223784(CCAGGA;TCCCCCGCCACCGGGGCGCATTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 114398640 |
Gene | TBX5 |
is a | snp |
is | mentioned by |
dbSNP | rs863223784 |
dbSNP (classic) | rs863223784 |
ClinGen | rs863223784 |
ebi | rs863223784 |
HLI | rs863223784 |
Exac | rs863223784 |
Gnomad | rs863223784 |
Varsome | rs863223784 |
LitVar | rs863223784 |
Map | rs863223784 |
PheGenI | rs863223784 |
Biobank | rs863223784 |
1000 genomes | rs863223784 |
hgdp | rs863223784 |
ensembl | rs863223784 |
geneview | rs863223784 |
scholar | rs863223784 |
rs863223784 | |
pharmgkb | rs863223784 |
gwascentral | rs863223784 |
openSNP | rs863223784 |
23andMe | rs863223784 |
SNPshot | rs863223784 |
SNPdbe | rs863223784 |
MSV3d | rs863223784 |
GWAS Ctlg | rs863223784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223784(CCAGGA;CCAGGA) |
Alt | rs863223784(CCAGGA;CCAGGA) |
Reference | Rs863223784(TCCCCCGCCACCGGGGCGCATTG;TCCCCCGCCACCGGGGCGCATTG) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | TBX5 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.114836445_114836467del23insTCCTGG |
CLNSRC | |
CLNACC | RCV000199954.2, |