TACR3, tachykinin receptor 3, 6870

N. diseases: 147; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918124
rs121918124 		1.000 4 103719398 missense variant C/G;T snv
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 1.000 3 2009 2014
dbSNP: rs121918125
rs121918125 		1.000 4 103591515 missense variant G/A;C snv 4.0E-06
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.800 1.000 3 2009 2014
dbSNP: rs1351623
rs1351623 		4 103666820 intron variant C/T snv 0.36
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.800 1.000 2 2010 2019
dbSNP: rs3733631
rs3733631 		4 103719946 5 prime UTR variant G/C snv 0.34
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.800 1.000 2 2010 2014
dbSNP: rs144292455
rs144292455 		0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 1.000 4 2010 2011
dbSNP: rs150288991
rs150288991 		1.000 4 103589989 missense variant C/G;T snv 1.1E-04 2.9E-04
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2009 2014
dbSNP: rs10007754
rs10007754 		4 103706285 intron variant T/G snv 0.34
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs10019555
rs10019555 		4 103694124 intron variant G/A;C snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs112217694
rs112217694 		4 103719907 5 prime UTR variant G/C snv 4.9E-02
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1351623
rs1351623 		4 103666820 intron variant C/T snv 0.36
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3733632
rs3733632 		4 103719778 5 prime UTR variant A/G snv 0.34
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3733632
rs3733632 		4 103719778 5 prime UTR variant A/G snv 0.34
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs3775971
rs3775971 		4 103720763 upstream gene variant T/C snv 0.34
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs6831087
rs6831087 		4 103697933 intron variant C/A snv 0.34
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs200148989
rs200148989 		1.000 4 103591536 missense variant T/C snv 4.0E-06
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs201195175
rs201195175 		4 103719165 missense variant C/A;G snv 4.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs397515483
rs397515483 		1.000 4 103656316 missense variant A/G snv
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs727505375
rs727505375 		1.000 0.040 4 103658329 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.700 0
dbSNP: rs764659822
rs764659822 		1.000 4 103658260 missense variant G/A snv 3.2E-05
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs1384401
rs1384401 		1.000 0.080 4 103643921 intron variant G/A snv 0.44
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1391626331
rs1391626331 		1.000 0.040 4 103591579 stop gained C/T snv 4.0E-06
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs144292455
rs144292455 		0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs144292455
rs144292455 		0.882 0.040 4 103656258 stop gained C/T snv 3.1E-04 3.8E-04
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17033889
rs17033889 		1.000 4 103589735 missense variant C/A;T snv 1.7E-04; 5.3E-03
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		0.010 1.000 1 2012 2012
dbSNP: rs769742678
rs769742678 		1.000 0.040 4 103719502 synonymous variant C/G snv 4.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2012 2012