rs515726234
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs515726234(A;T) |
Make rs515726234(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 114399574 |
Gene | TBX5 |
is a | snp |
is | mentioned by |
dbSNP | rs515726234 |
dbSNP (classic) | rs515726234 |
ClinGen | rs515726234 |
ebi | rs515726234 |
HLI | rs515726234 |
Exac | rs515726234 |
Gnomad | rs515726234 |
Varsome | rs515726234 |
LitVar | rs515726234 |
Map | rs515726234 |
PheGenI | rs515726234 |
Biobank | rs515726234 |
1000 genomes | rs515726234 |
hgdp | rs515726234 |
ensembl | rs515726234 |
geneview | rs515726234 |
scholar | rs515726234 |
rs515726234 | |
pharmgkb | rs515726234 |
gwascentral | rs515726234 |
openSNP | rs515726234 |
23andMe | rs515726234 |
SNPshot | rs515726234 |
SNPdbe | rs515726234 |
MSV3d | rs515726234 |
GWAS Ctlg | rs515726234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726234(T;T) |
Alt | rs515726234(T;T) |
Reference | Rs515726234(A;A) |
Significance | Probable-Pathogenic |
Disease | Heart |
Variation | info |
Gene | TBX5 |
CLNDBN | Heart, malformation of |
Reversed | 1 |
HGVS | NC_000012.11:g.114837379T>A |
CLNSRC | ClinVar |
CLNACC | RCV000128626.1, |