rs121918123
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918123(C;C) |
Make rs121918123(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 57012845 |
Gene | TAC3 |
is a | snp |
is | mentioned by |
dbSNP | rs121918123 |
dbSNP (classic) | rs121918123 |
ClinGen | rs121918123 |
ebi | rs121918123 |
HLI | rs121918123 |
Exac | rs121918123 |
Gnomad | rs121918123 |
Varsome | rs121918123 |
LitVar | rs121918123 |
Map | rs121918123 |
PheGenI | rs121918123 |
Biobank | rs121918123 |
1000 genomes | rs121918123 |
hgdp | rs121918123 |
ensembl | rs121918123 |
geneview | rs121918123 |
scholar | rs121918123 |
rs121918123 | |
pharmgkb | rs121918123 |
gwascentral | rs121918123 |
openSNP | rs121918123 |
23andMe | rs121918123 |
SNPshot | rs121918123 |
SNPdbe | rs121918123 |
MSV3d | rs121918123 |
GWAS Ctlg | rs121918123 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918123(C;C) |
Alt | rs121918123(C;C) |
Reference | Rs121918123(T;T) |
Significance | Pathogenic |
Disease | Hypogonadotropic hypogonadism 10 without anosmia not provided |
Variation | info |
Gene | TAC3 |
CLNDBN | Hypogonadotropic hypogonadism 10 without anosmia not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.57406629A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000030899.25, RCV000059795.1, |
[PMID 19079066] TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.