rs61747482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs61747482(C;C) |
Make rs61747482(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 80955786 |
Gene | CEP128, TSHR |
is a | snp |
is | mentioned by |
dbSNP | rs61747482 |
dbSNP (classic) | rs61747482 |
ClinGen | rs61747482 |
ebi | rs61747482 |
HLI | rs61747482 |
Exac | rs61747482 |
Gnomad | rs61747482 |
Varsome | rs61747482 |
LitVar | rs61747482 |
Map | rs61747482 |
PheGenI | rs61747482 |
Biobank | rs61747482 |
1000 genomes | rs61747482 |
hgdp | rs61747482 |
ensembl | rs61747482 |
geneview | rs61747482 |
scholar | rs61747482 |
rs61747482 | |
pharmgkb | rs61747482 |
gwascentral | rs61747482 |
openSNP | rs61747482 |
23andMe | rs61747482 |
SNPshot | rs61747482 |
SNPdbe | rs61747482 |
MSV3d | rs61747482 |
GWAS Ctlg | rs61747482 |
GMAF | 0.002296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61747482(C;C) |
Alt | rs61747482(C;C) |
Reference | Rs61747482(G;G) |
Significance | Probable-non-pathogenic |
Disease | THYROTROPIN RECEPTOR POLYMORPHISM not specified Hyperthyroidism Congenital hypothyroidism |
Variation | info |
Gene | TSHR |
CLNDBN | THYROTROPIN RECEPTOR POLYMORPHISM not specified Hyperthyroidism, nonautoimmune Congenital hypothyroidism |
Reversed | 0 |
HGVS | NC_000014.8:g.81422130G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006799.3, RCV000122245.2, RCV000259846.1, RCV000373195.1, |