rs397514484
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514484(C;T) |
Make rs397514484(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 114676361 |
Gene | TBX3 |
is a | snp |
is | mentioned by |
dbSNP | rs397514484 |
dbSNP (classic) | rs397514484 |
ClinGen | rs397514484 |
ebi | rs397514484 |
HLI | rs397514484 |
Exac | rs397514484 |
Gnomad | rs397514484 |
Varsome | rs397514484 |
LitVar | rs397514484 |
Map | rs397514484 |
PheGenI | rs397514484 |
Biobank | rs397514484 |
1000 genomes | rs397514484 |
hgdp | rs397514484 |
ensembl | rs397514484 |
geneview | rs397514484 |
scholar | rs397514484 |
rs397514484 | |
pharmgkb | rs397514484 |
gwascentral | rs397514484 |
openSNP | rs397514484 |
23andMe | rs397514484 |
SNPshot | rs397514484 |
SNPdbe | rs397514484 |
MSV3d | rs397514484 |
GWAS Ctlg | rs397514484 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514484(T;T) |
Alt | rs397514484(T;T) |
Reference | Rs397514484(C;C) |
Significance | Pathogenic |
Disease | Ulnar-mammary syndrome |
Variation | info |
Gene | TBX3 |
CLNDBN | Ulnar-mammary syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.115114166G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024600.62, |