rs886041247
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 12 |
Position | 114394817 |
Gene | TBX5 |
is a | snp |
is | mentioned by |
dbSNP | rs886041247 |
dbSNP (classic) | rs886041247 |
ClinGen | rs886041247 |
ebi | rs886041247 |
HLI | rs886041247 |
Exac | rs886041247 |
Gnomad | rs886041247 |
Varsome | rs886041247 |
LitVar | rs886041247 |
Map | rs886041247 |
PheGenI | rs886041247 |
Biobank | rs886041247 |
1000 genomes | rs886041247 |
hgdp | rs886041247 |
ensembl | rs886041247 |
geneview | rs886041247 |
scholar | rs886041247 |
rs886041247 | |
pharmgkb | rs886041247 |
gwascentral | rs886041247 |
openSNP | rs886041247 |
23andMe | rs886041247 |
SNPshot | rs886041247 |
SNPdbe | rs886041247 |
MSV3d | rs886041247 |
GWAS Ctlg | rs886041247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041247(A;A) |
Alt | rs886041247(A;A) |
Reference | Rs886041247(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | TBX5 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.114832622G>T |
CLNSRC | |
CLNACC | RCV000277503.1, |