rs483353129
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs483353129(A;A) |
Make rs483353129(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 114399537 |
Gene | TBX5 |
is a | snp |
is | mentioned by |
dbSNP | rs483353129 |
dbSNP (classic) | rs483353129 |
ClinGen | rs483353129 |
ebi | rs483353129 |
HLI | rs483353129 |
Exac | rs483353129 |
Gnomad | rs483353129 |
Varsome | rs483353129 |
LitVar | rs483353129 |
Map | rs483353129 |
PheGenI | rs483353129 |
Biobank | rs483353129 |
1000 genomes | rs483353129 |
hgdp | rs483353129 |
ensembl | rs483353129 |
geneview | rs483353129 |
scholar | rs483353129 |
rs483353129 | |
pharmgkb | rs483353129 |
gwascentral | rs483353129 |
openSNP | rs483353129 |
23andMe | rs483353129 |
SNPshot | rs483353129 |
SNPdbe | rs483353129 |
MSV3d | rs483353129 |
GWAS Ctlg | rs483353129 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353129(A;A) rs483353129(T;T) |
Alt | rs483353129(A;A) rs483353129(T;T) |
Reference | Rs483353129(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | TBX5 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.114837342C>T |
CLNSRC | ClinVar |
CLNACC | RCV000128532.1, |