SSTR4, somatostatin receptor 4, 6754

N. diseases: 266; N. variants: 9
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0020538
Disease:
Hypertensive disease
0.030 GeneticVariation BEFREE GRK4 is implicated in the regulation of blood pressure, and three GRK4 polymorphisms (R65L, A142V, and A486V) are associated with hypertension. 26134571 2015
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0020538
Disease:
Hypertensive disease
0.030 GeneticVariation BEFREE Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups. 20153824 2010
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0020538
Disease:
Hypertensive disease
0.030 GeneticVariation BEFREE A genetic model based on GRK4 R65L, GRK4 A142V, and GRK4 A486V was 94.4% predictive of SS hypertension, whereas the single-locus model with only GRK4 A142V was 78.4% predictive, and a 2-locus model of GRK4 A142V and CYP11B2 C-344T was 77.8% predictive of low-renin hypertension. 16439609 2006
dbSNP: rs1449409868
rs1449409868
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0025202
Disease:
melanoma
0.020 GeneticVariation BEFREE The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its association with melanoma development. 27755135 2018
dbSNP: rs773962041
rs773962041
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0025202
Disease:
melanoma
0.020 GeneticVariation BEFREE The D294H heterozygous variant was observed in 0.3% of individuals in the control group and in 1.1% of the patients in the melanoma group. 27755135 2018
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE Non-synonymous GRK4 variants, R65L, A142V and A486V, are associated with essential hypertension in diverse populations. 25732908 2016
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups. 20153824 2010
dbSNP: rs1449409868
rs1449409868
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0025202
Disease:
melanoma
0.020 GeneticVariation BEFREE When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type. 19755124 2009
dbSNP: rs773962041
rs773962041
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0025202
Disease:
melanoma
0.020 GeneticVariation BEFREE When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type. 19755124 2009
dbSNP: rs1376766191
rs1376766191
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C1862151
Disease:
BRACHYDACTYLY, TYPE A1 (disorder)
0.010 GeneticVariation BEFREE p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 30651074 2019
dbSNP: rs2567608
rs2567608
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.010 GeneticVariation BEFREE Additionally, we suggest that patients with AD of the <i>SSTR4</i> rs2567608 TT genotype may be more vulnerable to ACEs and at a higher risk of suicide attempt. 28924491 2017
dbSNP: rs2567608
rs2567608
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0085762
Disease:
Alcohol abuse
0.010 GeneticVariation BEFREE None of following characteristics: current age, gender, term and kind of labor, 13 categories of childhood trauma, diet, alcohol drinking severity, age at alcohol drinking initiation, age at onset of problem drinking, cigarette smoking, and <i>SSTR4</i> rs2567608 was a significant predictor for <i>SSTR4</i> promoter region methylation. 29104801 2017
dbSNP: rs749577596
rs749577596
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059 2017
dbSNP: rs749577596
rs749577596
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059 2017
dbSNP: rs374088897
rs374088897
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C3875046
Disease:
Partial nephrogenic diabetes insipidus
0.010 GeneticVariation BEFREE A novel V2R mutation, T273M, identified in a boy with partial nephrogenic diabetes insipidus (NDI), shows intracellular localization and partial defects similar to the two mutants we described previously (10). 27601473 2016
dbSNP: rs374088897
rs374088897
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C1563705
Disease:
Nephrogenic Diabetes Insipidus, Type I
0.010 GeneticVariation BEFREE A novel V2R mutation, T273M, identified in a boy with partial nephrogenic diabetes insipidus (NDI), shows intracellular localization and partial defects similar to the two mutants we described previously (10). 27601473 2016
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (rs1024323), and A486V (rs1801058), would be associated with blood pressure response to atenolol, but not hydrochlorothiazide, and would be associated with long-term cardiovascular outcomes (all-cause death, nonfatal myocardial infarction, nonfatal stroke) in participants treated with an atenolol-based versus verapamil-SR-based antihypertensive strategy. 22949529 2012
dbSNP: rs1334899057
rs1334899057
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0264657
Disease:
Renal sclerosis with hypertension
0.010 GeneticVariation BEFREE Results suggest a sex-specific relationship between GRK4 A142V and blood pressure response among African-American men with early hypertensive nephrosclerosis. 19119263 2009
dbSNP: rs984473166
rs984473166
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0033860
Disease:
Psoriasis
0.010 GeneticVariation BEFREE In contrast, inheritance of the Val(60)Leu and Arg(163)Gln SNPs was associated with increased PUVA erythemal sensitivity (reduced MPD) 72 h following treatment in all patients (n = 111; Val(60)Leu chi(2) = 5.764, P = 0.016; Arg(163)Gln chi(2) = 5.469, P = 0.019) and in a subset of patients with psoriasis (n = 55; Val(60)Leu chi(2) = 4.534, P = 0.033; Arg(163)Gln chi(2) = 7.298, P = 0.007). 17916200 2007
dbSNP: rs1449409868
rs1449409868
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C1849452
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
0.010 GeneticVariation BEFREE The R151C, R160W and D294H alleles, designated 'R', are strongly associated with the RHC phenotype and have been proposed to result in loss of function receptors due to impaired G-protein coupling. 15972726 2005
dbSNP: rs185218834
rs185218834
Entrez Id: 6754
Gene Symbol: SSTR4
SSTR4
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE By screening patients with severe early onset obesity for mutations within the melanocortin 4 receptor (MC4R) gene, we have identified a missense mutation (C271R) that occurs homozygous in two siblings with obesity. 14504270 2003