SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
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: rs139438618
rs139438618 		0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.710 1.000 1 2017 2017
dbSNP: rs139438618
rs139438618 		0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.710 1.000 1 2017 2017
dbSNP: rs137871935
rs137871935 		1.000 7 84001957 missense variant G/A snv 1.6E-04; 4.0E-06 1.3E-04
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs139295139
rs139295139 		1.000 7 84060554 missense variant T/C snv 2.3E-03 2.5E-03
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs318240751
rs318240751 		1.000 7 83961625 missense variant T/C snv 1.8E-04 1.4E-04
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs318240752
rs318240752 		1.000 7 83961498 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs318240753
rs318240753 		1.000 7 83961489 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs36026860
rs36026860 		1.000 7 84005501 missense variant T/C snv 2.4E-04 9.8E-04
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs748219597
rs748219597 		1.000 7 83961716 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs761486957
rs761486957 		1.000 7 84005359 missense variant T/C snv 5.6E-05 5.6E-05
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2012 2014
dbSNP: rs139438618
rs139438618 		0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		Chemically-Induced Disorders 0.700 1.000 1 2017 2017
dbSNP: rs139438618
rs139438618 		0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs556621759
rs556621759 		7 84069940 intron variant T/C snv 5.6E-04
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.700 1.000 1 2017 2017
dbSNP: rs138952094
rs138952094 		7 83961537 missense variant G/A snv 1.2E-03 7.6E-04
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs143007146
rs143007146 		1.000 0.080 7 84110532 missense variant C/T snv 1.0E-04 9.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs199979628
rs199979628 		0.925 0.160 7 84134868 missense variant G/A snv 5.3E-04 4.3E-04
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs11766001
rs11766001 		1.000 0.080 7 84515886 intergenic variant A/C snv 0.11
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs138694505
rs138694505 		1.000 0.040 7 84007493 missense variant T/C snv 3.4E-03 6.6E-03
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs139438618
rs139438618 		0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs147436181
rs147436181 		1.000 0.080 7 84005396 missense variant C/T snv 1.4E-02 1.2E-02
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		Neoplasms; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1487309678
rs1487309678 		0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2015 2015
dbSNP: rs1487309678
rs1487309678 		0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06
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: rs1487309678
rs1487309678 		0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06
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
dbSNP: rs1487309678
rs1487309678 		0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06
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: rs1487309678
rs1487309678 		0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06
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