rs137853085
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCC;TCC) | 0 | common in clinvar |
Make rs137853085(-;-) |
Make rs137853085(-;TCC) |
Reference | GRCh37.p5 37.3/135 |
Chromosome | 11 |
Position | 763393 |
Gene | TALDO1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853085 |
dbSNP (classic) | rs137853085 |
ClinGen | rs137853085 |
ebi | rs137853085 |
HLI | rs137853085 |
Exac | rs137853085 |
Gnomad | rs137853085 |
Varsome | rs137853085 |
LitVar | rs137853085 |
Map | rs137853085 |
PheGenI | rs137853085 |
Biobank | rs137853085 |
1000 genomes | rs137853085 |
hgdp | rs137853085 |
ensembl | rs137853085 |
geneview | rs137853085 |
scholar | rs137853085 |
rs137853085 | |
pharmgkb | rs137853085 |
gwascentral | rs137853085 |
openSNP | rs137853085 |
23andMe | rs137853085 |
SNPshot | rs137853085 |
SNPdbe | rs137853085 |
MSV3d | rs137853085 |
GWAS Ctlg | rs137853085 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853085(-;-) Rs137853085(CTC;CTC) |
Alt | rs137853085(-;-) Rs137853085(CTC;CTC) |
Reference | Rs137853085(TCC;TCC) |
Significance | Pathogenic |
Disease | Deficiency of transaldolase |
Variation | info |
Gene | TALDO1 |
CLNDBN | Deficiency of transaldolase |
Reversed | 0 |
HGVS | NC_000011.9:g.763393_763395delTCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007998.2, |