WDR11, WD repeat domain 11, 55717

N. diseases: 179; N. variants: 8
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: rs318240760
rs318240760 		1.000 10 120871178 missense variant G/A;C snv 1.7E-04; 1.2E-05
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.800 1.000 2 2010 2018
dbSNP: rs139007744
rs139007744 		1.000 10 120906788 missense variant T/G snv 7.0E-04 3.1E-04
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2010 2018
dbSNP: rs144440500
rs144440500 		1.000 10 120871218 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2010 2018
dbSNP: rs201051480
rs201051480 		1.000 10 120866757 missense variant C/T snv 1.6E-05 3.5E-05
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2010 2018
dbSNP: rs318240761
rs318240761 		1.000 10 120886785 missense variant T/A snv 5.2E-05 4.2E-05
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2010 2018
dbSNP: rs761599645
rs761599645 		1.000 10 120878406 missense variant C/T snv 1.2E-05
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2010 2018
dbSNP: rs4548546
rs4548546 		1.000 0.040 10 120870067 intron variant C/G;T snv
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs4548546
rs4548546 		1.000 0.040 10 120870067 intron variant C/G;T snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4548546
rs4548546 		1.000 0.040 10 120870067 intron variant C/G;T snv
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1269636220
rs1269636220 		0.851 0.280 10 120865109 missense variant A/G snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2015 2015
dbSNP: rs1269636220
rs1269636220 		0.851 0.280 10 120865109 missense variant A/G snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1269636220
rs1269636220 		0.851 0.280 10 120865109 missense variant A/G snv
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: rs1269636220
rs1269636220 		0.851 0.280 10 120865109 missense variant A/G snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1269636220
rs1269636220 		0.851 0.280 10 120865109 missense variant A/G snv
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