NM_000376.3:c.1025-49G>T

HGVS Expressions

  • NG_008731.1:g.64978G>T
  • NM_000376.3:c.1025-49G>T
  • NP_000367.1:p.?
  • NC_000012.12:g.47845054C>A

Associated Genes

Vitamin D Receptor
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Association, Benign

Variant Type

Substitution

dbSNP

7975232

Clinvar

1252227

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
176807.G.1.1Lebanon480.35BenignProstate CancerEl Ezzi et al. 2017 69 patients with confirmed prostate canc...
176807.G.1.2Lebanon530.38BenignEl Ezzi et al. 2017 69 Lebanese control subjects
600082.G.1.1Lebanon0.63AssociationProstatic Hyperplasia, BenignEl Ezzi et al. 2014 68 patients with BPH. VDR SNPs (c.2T>G) ...
600082.G.1.2Lebanon0.38El Ezzi et al. 2014 79 Lebanese controls
600807.G.2.1United Arab Emirates0.5AssociationAsthma, Susceptibility toAl Mousa. 2019 33 moderate to severe asthmatics. rs7975...
600807.G.2.2United Arab Emirates0.417AssociationAsthma, Susceptibility toAl Mousa. 2019 79 mild asthmatics
600807.G.2.3United Arab Emirates0.385AssociationAl Mousa. 2019 164 healthy subjects
601769.G.2.3Lebanon4340.59AssociationHajj et al. 2016 Group of healthy individuals including 1...
601769.G.4.3Lebanon1610.16BenignArabi et al. 2010 Study on healthy individuals. Heterozygo...
601769.G.4.4Lebanon1060.16BenignArabi et al. 2010 Study on healthy individuals. Heterozygo...
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