SSTR4, somatostatin receptor 4, 6754

N. diseases: 273; N. variants: 9
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: rs1334899057
rs1334899057 		0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2006 2015
dbSNP: rs1334899057
rs1334899057 		0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2010 2016
dbSNP: rs1449409868
rs1449409868 		0.925 0.040 20 23035958 missense variant C/A;T snv 4.1E-06; 4.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.020 1.000 2 2009 2018
dbSNP: rs773962041
rs773962041 		1.000 0.040 20 23036363 missense variant C/G snv 1.6E-05
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.020 1.000 2 2009 2018
dbSNP: rs1334899057
rs1334899057 		0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06
CUI: C0264657
Disease: Renal sclerosis with hypertension
Renal sclerosis with hypertension 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1334899057
rs1334899057 		0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1376766191
rs1376766191 		1.000 0.080 20 23035763 stop gained G/A;T snv 4.3E-06; 4.3E-06
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1449409868
rs1449409868 		0.925 0.040 20 23035958 missense variant C/A;T snv 4.1E-06; 4.1E-06
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 1.000 1 2005 2005
dbSNP: rs185218834
rs185218834 		1.000 0.080 20 23036294 missense variant T/C;G snv 4.0E-06; 3.5E-04
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs2567608
rs2567608 		0.925 0.080 20 23036445 missense variant T/A;C snv 2.8E-05; 0.49
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2567608
rs2567608 		0.925 0.080 20 23036445 missense variant T/A;C snv 2.8E-05; 0.49
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs374088897
rs374088897 		0.925 0.080 20 23036301 missense variant T/C snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs374088897
rs374088897 		0.925 0.080 20 23036301 missense variant T/C snv
CUI: C3875046
Disease: Partial nephrogenic diabetes insipidus
Partial nephrogenic diabetes insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs749577596
rs749577596 		0.925 0.040 20 23035646 missense variant G/A;T snv 5.3E-06; 5.3E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs749577596
rs749577596 		0.925 0.040 20 23035646 missense variant G/A;T snv 5.3E-06; 5.3E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs984473166
rs984473166 		1.000 0.040 20 23035661 missense variant G/T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007