rs199599591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199599591(A;A) |
Make rs199599591(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 132941493 |
Gene | TG |
is a | snp |
is | mentioned by |
dbSNP | rs199599591 |
dbSNP (classic) | rs199599591 |
ClinGen | rs199599591 |
ebi | rs199599591 |
HLI | rs199599591 |
Exac | rs199599591 |
Gnomad | rs199599591 |
Varsome | rs199599591 |
LitVar | rs199599591 |
Map | rs199599591 |
PheGenI | rs199599591 |
Biobank | rs199599591 |
1000 genomes | rs199599591 |
hgdp | rs199599591 |
ensembl | rs199599591 |
geneview | rs199599591 |
scholar | rs199599591 |
rs199599591 | |
pharmgkb | rs199599591 |
gwascentral | rs199599591 |
openSNP | rs199599591 |
23andMe | rs199599591 |
SNPshot | rs199599591 |
SNPdbe | rs199599591 |
MSV3d | rs199599591 |
GWAS Ctlg | rs199599591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199599591(A;A) rs199599591(T;T) |
Alt | rs199599591(A;A) rs199599591(T;T) |
Reference | Rs199599591(C;C) |
Significance | Pathogenic |
Disease | Iodotyrosyl coupling defect |
Variation | info |
Gene | TG |
CLNDBN | Iodotyrosyl coupling defect |
Reversed | 0 |
HGVS | NC_000008.10:g.133953738C>A |
CLNSRC | |
CLNACC | RCV000190631.1, |