rs2229843
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs2229843(G;T) |
Make rs2229843(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 132888417 |
Gene | TG |
is a | snp |
is | mentioned by |
dbSNP | rs2229843 |
dbSNP (classic) | rs2229843 |
ClinGen | rs2229843 |
ebi | rs2229843 |
HLI | rs2229843 |
Exac | rs2229843 |
Gnomad | rs2229843 |
Varsome | rs2229843 |
LitVar | rs2229843 |
Map | rs2229843 |
PheGenI | rs2229843 |
Biobank | rs2229843 |
1000 genomes | rs2229843 |
hgdp | rs2229843 |
ensembl | rs2229843 |
geneview | rs2229843 |
scholar | rs2229843 |
rs2229843 | |
pharmgkb | rs2229843 |
gwascentral | rs2229843 |
openSNP | rs2229843 |
23andMe | rs2229843 |
SNPshot | rs2229843 |
SNPdbe | rs2229843 |
MSV3d | rs2229843 |
GWAS Ctlg | rs2229843 |
GMAF | 0.001377 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2229843(T;T) |
Alt | rs2229843(T;T) |
Reference | Rs2229843(G;G) |
Significance | Unknown |
Disease | Iodotyrosyl coupling defect |
Variation | info |
Gene | TG |
CLNDBN | Iodotyrosyl coupling defect |
Reversed | 0 |
HGVS | NC_000008.10:g.133900662G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013527.2, |