rs863223276
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAT;CAT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCA;TCA) | 0 | common in clinvar |
Make rs863223276(-;-) |
Make rs863223276(-;CAT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 150389488 |
Gene | IYD |
is a | snp |
is | mentioned by |
dbSNP | rs863223276 |
dbSNP (classic) | rs863223276 |
ClinGen | rs863223276 |
ebi | rs863223276 |
HLI | rs863223276 |
Exac | rs863223276 |
Gnomad | rs863223276 |
Varsome | rs863223276 |
LitVar | rs863223276 |
Map | rs863223276 |
PheGenI | rs863223276 |
Biobank | rs863223276 |
1000 genomes | rs863223276 |
hgdp | rs863223276 |
ensembl | rs863223276 |
geneview | rs863223276 |
scholar | rs863223276 |
rs863223276 | |
pharmgkb | rs863223276 |
gwascentral | rs863223276 |
openSNP | rs863223276 |
23andMe | rs863223276 |
SNPshot | rs863223276 |
SNPdbe | rs863223276 |
MSV3d | rs863223276 |
GWAS Ctlg | rs863223276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223276(-;-) Rs863223276(TCA;TCA) |
Alt | rs863223276(-;-) Rs863223276(TCA;TCA) |
Reference | Rs863223276(CAT;CAT) |
Significance | Pathogenic |
Disease | Iodotyrosine deiodination defect |
Variation | info |
Gene | IYD |
CLNDBN | Iodotyrosine deiodination defect |
Reversed | 0 |
HGVS | NC_000006.11:g.150710624_150710626delCAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000774.3, |