NM_000376.2:c.1024+283G>A

HGVS Expressions

  • NG_008731.1:g.63980G>A
  • NM_000376.2:c.1024+283G>A
  • NP_000367.1:p.?
  • NC_000012.12:g.47846052C>T

Associated Genes

Vitamin D Receptor
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Association, Benign

Variant Type

Substitution

dbSNP

1544410

Clinvar

1259287

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.G.43.1United Arab Emirates78NAAssociationType 2 Diabetes MellitusAl Safar et al. 2018 Study with 264 unrelated T2DM patients (...
125853.G.43.2United Arab Emirates78NAAl Safar et al. 2018 Control group comprising 90 subjects (68...
176807.G.1.1Lebanon770.56BenignProstate CancerEl Ezzi et al. 2017 69 patients with confirmed prostate canc...
176807.G.1.2Lebanon830.60BenignEl Ezzi et al. 2017 69 Lebanese control subjects
600082.G.1.1Lebanon0.0.42AssociationProstatic Hyperplasia, BenignEl Ezzi et al. 2014 68 patients with BPH. VDR SNPs (c.2T>G) ...
600082.G.1.2Lebanon0.58El Ezzi et al. 2014 79 Lebanese controls
601665.G.2.2United Arab EmiratesNA0.514ObesityKhan et al. 2018 Study with 414 overweight/obese subjects...
601769.G.2.1Lebanon1580.43AssociationHajj et al. 2016 Group of healthy individuals including 6...
601769.G.3.1Lebanon96BenignArabi et al. 2009 VDR polymorphisms (using Bsm1 and Taq1 e...
601769.G.3.2Lebanon88BenignArabi et al. 2009 VDR polymorphisms (using Bsm1 and Taq1 e...
601769.G.4.1Lebanon1690.33BenignArabi et al. 2010 Study on healthy individuals. Heterozygo...
601769.G.4.2Lebanon2200.33BenignArabi et al. 2010 Study on healthy individuals. Heterozygo...
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