TACR3, tachykinin receptor 3, 6870

N. diseases: 147; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1351623
rs1351623
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs121918124
rs121918124
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121918125
rs121918125
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs3733631
rs3733631
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		C 0.800 GeneticVariation GWASCAT Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 25231870 2014
dbSNP: rs121918124
rs121918124
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs121918125
rs121918125
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs1351623
rs1351623
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		T 0.800 GeneticVariation GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010
dbSNP: rs3733631
rs3733631
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		C 0.800 GeneticVariation GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010
dbSNP: rs121918124
rs121918124
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
dbSNP: rs121918125
rs121918125
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
dbSNP: rs121918124
rs121918124
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918125
rs121918125
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1351623
rs1351623
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3733632
rs3733632
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs112217694
rs112217694
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs150288991
rs150288991
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs150288991
rs150288991
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs144292455
rs144292455
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		T 0.700 CausalMutation CLINVAR Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. 22031817 2011
dbSNP: rs144292455
rs144292455
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		T 0.700 CausalMutation CLINVAR Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 21300340 2011
dbSNP: rs144292455
rs144292455
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		T 0.700 CausalMutation CLINVAR The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 22035731 2011
dbSNP: rs10007754
rs10007754
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		T 0.700 GeneticVariation GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010
dbSNP: rs10019555
rs10019555
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		A 0.700 GeneticVariation GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010
dbSNP: rs144292455
rs144292455
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C3553844
Disease:
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		T 0.700 CausalMutation CLINVAR TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 20332248 2010
dbSNP: rs3733632
rs3733632
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		A 0.700 GeneticVariation GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010
dbSNP: rs3775971
rs3775971
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
CUI: C1314691
Disease:
Age at menarche 		T 0.700 GeneticVariation GWASDB Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 21102462 2010