rs121918138
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918138(C;T) |
Make rs121918138(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 150389474 |
Gene | IYD |
is a | snp |
is | mentioned by |
dbSNP | rs121918138 |
dbSNP (classic) | rs121918138 |
ClinGen | rs121918138 |
ebi | rs121918138 |
HLI | rs121918138 |
Exac | rs121918138 |
Gnomad | rs121918138 |
Varsome | rs121918138 |
LitVar | rs121918138 |
Map | rs121918138 |
PheGenI | rs121918138 |
Biobank | rs121918138 |
1000 genomes | rs121918138 |
hgdp | rs121918138 |
ensembl | rs121918138 |
geneview | rs121918138 |
scholar | rs121918138 |
rs121918138 | |
pharmgkb | rs121918138 |
gwascentral | rs121918138 |
openSNP | rs121918138 |
23andMe | rs121918138 |
SNPshot | rs121918138 |
SNPdbe | rs121918138 |
MSV3d | rs121918138 |
GWAS Ctlg | rs121918138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918138(T;T) |
Alt | rs121918138(T;T) |
Reference | Rs121918138(C;C) |
Significance | Pathogenic |
Disease | Iodotyrosine deiodination defect |
Variation | info |
Gene | IYD |
CLNDBN | Iodotyrosine deiodination defect |
Reversed | 0 |
HGVS | NC_000006.11:g.150710610C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000773.2, |