rs774274702
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774274702(A;A) |
Make rs774274702(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 132873226 |
Gene | TG |
is a | snp |
is | mentioned by |
dbSNP | rs774274702 |
dbSNP (classic) | rs774274702 |
ClinGen | rs774274702 |
ebi | rs774274702 |
HLI | rs774274702 |
Exac | rs774274702 |
Gnomad | rs774274702 |
Varsome | rs774274702 |
LitVar | rs774274702 |
Map | rs774274702 |
PheGenI | rs774274702 |
Biobank | rs774274702 |
1000 genomes | rs774274702 |
hgdp | rs774274702 |
ensembl | rs774274702 |
geneview | rs774274702 |
scholar | rs774274702 |
rs774274702 | |
pharmgkb | rs774274702 |
gwascentral | rs774274702 |
openSNP | rs774274702 |
23andMe | rs774274702 |
SNPshot | rs774274702 |
SNPdbe | rs774274702 |
MSV3d | rs774274702 |
GWAS Ctlg | rs774274702 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774274702(A;A) |
Alt | rs774274702(A;A) |
Reference | Rs774274702(G;G) |
Significance | Pathogenic |
Disease | Iodotyrosyl coupling defect Thyroid dyshormonogenesis |
Variation | info |
Gene | TG |
CLNDBN | Iodotyrosyl coupling defect Thyroid dyshormonogenesis |
Reversed | 0 |
HGVS | NC_000008.10:g.133885471G>A |
CLNSRC | |
CLNACC | RCV000207481.1, RCV000272586.1, |