rs7144481
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs7144481(C;T) |
Make rs7144481(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 81144598 |
Gene | LOC101928462, TSHR |
is a | snp |
is | mentioned by |
dbSNP | rs7144481 |
dbSNP (classic) | rs7144481 |
ClinGen | rs7144481 |
ebi | rs7144481 |
HLI | rs7144481 |
Exac | rs7144481 |
Gnomad | rs7144481 |
Varsome | rs7144481 |
LitVar | rs7144481 |
Map | rs7144481 |
PheGenI | rs7144481 |
Biobank | rs7144481 |
1000 genomes | rs7144481 |
hgdp | rs7144481 |
ensembl | rs7144481 |
geneview | rs7144481 |
scholar | rs7144481 |
rs7144481 | |
pharmgkb | rs7144481 |
gwascentral | rs7144481 |
openSNP | rs7144481 |
23andMe | rs7144481 |
SNPshot | rs7144481 |
SNPdbe | rs7144481 |
MSV3d | rs7144481 |
GWAS Ctlg | rs7144481 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
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ClinVar | |
---|---|
Risk | rs7144481(T;T) |
Alt | rs7144481(T;T) |
Reference | Rs7144481(C;C) |
Significance | Probable-non-pathogenic |
Disease | Hyperthyroidism Congenital hypothyroidism |
Variation | info |
Gene | LOC101928431 TSHR |
CLNDBN | Hyperthyroidism, nonautoimmune Congenital hypothyroidism |
Reversed | 0 |
HGVS | NC_000014.8:g.81610942C>T |
CLNSRC | |
CLNACC | RCV000340818.1, RCV000398726.1, |