KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
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: rs397514699
rs397514699 		1.000 19 919949 missense variant C/A;T snv 3.5E-05; 5.8E-06
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.800 1.000 6 2003 2014
dbSNP: rs121908499
rs121908499 		0.882 0.040 19 920708 missense variant G/C snv 1.2E-04 8.6E-04
CUI: C3805879
Disease: PRECOCIOUS PUBERTY, CENTRAL, 1
PRECOCIOUS PUBERTY, CENTRAL, 1 		0.800 1.000 1 2008 2008
dbSNP: rs104894703
rs104894703 		0.882 0.040 19 918604 missense variant T/C snv 2.5E-05 1.4E-05
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 1.000 6 2003 2014
dbSNP: rs144670595
rs144670595 		0.925 0.120 19 920441 missense variant G/T snv 3.3E-04 4.5E-04
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 1.000 6 2003 2014
dbSNP: rs28939719
rs28939719 		0.882 0.040 19 919563 missense variant T/C snv
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 1.000 6 2003 2014
dbSNP: rs73507527
rs73507527 		1.000 19 919933 missense variant G/A;T snv 4.6E-03; 6.0E-06
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 1.000 6 2003 2014
dbSNP: rs745580229
rs745580229 		1.000 19 920336 missense variant C/T snv 6.0E-06
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 1.000 6 2003 2014
dbSNP: rs104894701
rs104894701 		0.925 0.040 19 920542 stop gained C/T snv 7.0E-06
CUI: C4016875
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA 		0.700 0
dbSNP: rs104894702
rs104894702 		0.925 0.040 19 920746 stop lost T/A;C snv 6.8E-05
CUI: C4016875
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA 		0.700 0
dbSNP: rs104894703
rs104894703 		0.882 0.040 19 918604 missense variant T/C snv 2.5E-05 1.4E-05
CUI: C4016875
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA 		0.700 0
dbSNP: rs28939719
rs28939719 		0.882 0.040 19 919563 missense variant T/C snv
CUI: C4016875
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA 		0.700 0
dbSNP: rs587777844
rs587777844 		1.000 19 920488 missense variant T/C snv 8.2E-06 7.0E-06
CUI: C4016875
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA 		0.700 0
dbSNP: rs28939719
rs28939719 		0.882 0.040 19 919563 missense variant T/C snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.030 1.000 3 2003 2008
dbSNP: rs104894701
rs104894701 		0.925 0.040 19 920542 stop gained C/T snv 7.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.020 1.000 2 2003 2006
dbSNP: rs104894702
rs104894702 		0.925 0.040 19 920746 stop lost T/A;C snv 6.8E-05
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.020 1.000 2 2003 2006
dbSNP: rs10407968
rs10407968 		1.000 0.040 19 917526 synonymous variant A/G snv 0.16 0.18
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central precocious puberty 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104894703
rs104894703 		0.882 0.040 19 918604 missense variant T/C snv 2.5E-05 1.4E-05
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs121908499
rs121908499 		0.882 0.040 19 920708 missense variant G/C snv 1.2E-04 8.6E-04
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central precocious puberty 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908499
rs121908499 		0.882 0.040 19 920708 missense variant G/C snv 1.2E-04 8.6E-04
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs144670595
rs144670595 		0.925 0.120 19 920441 missense variant G/T snv 3.3E-04 4.5E-04
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs350132
rs350132 		1.000 0.080 19 920642 missense variant T/A;C snv 0.78
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs572007403
rs572007403 		0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs572007403
rs572007403 		0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2015 2015
dbSNP: rs572007403
rs572007403 		0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs572007403
rs572007403 		0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015