rs121909178
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909178(C;C) |
Make rs121909178(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 17872596 |
Gene | SLC5A5 |
is a | snp |
is | mentioned by |
dbSNP | rs121909178 |
dbSNP (classic) | rs121909178 |
ClinGen | rs121909178 |
ebi | rs121909178 |
HLI | rs121909178 |
Exac | rs121909178 |
Gnomad | rs121909178 |
Varsome | rs121909178 |
LitVar | rs121909178 |
Map | rs121909178 |
PheGenI | rs121909178 |
Biobank | rs121909178 |
1000 genomes | rs121909178 |
hgdp | rs121909178 |
ensembl | rs121909178 |
geneview | rs121909178 |
scholar | rs121909178 |
rs121909178 | |
pharmgkb | rs121909178 |
gwascentral | rs121909178 |
openSNP | rs121909178 |
23andMe | rs121909178 |
SNPshot | rs121909178 |
SNPdbe | rs121909178 |
MSV3d | rs121909178 |
GWAS Ctlg | rs121909178 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909178(A;A) rs121909178(C;C) |
Alt | rs121909178(A;A) rs121909178(C;C) |
Reference | Rs121909178(G;G) |
Significance | Pathogenic |
Disease | Thyroid dyshormonogenesis 1 |
Variation | info |
Gene | SLC5A5 |
CLNDBN | Thyroid dyshormonogenesis 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.17983405G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008107.2, |