NC_000020.11:g.54125940=

HGVS Expressions

  • NC_000020.11:g.54125940=
  • NC_000020.11:g.54125940T=
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CTGA Clinical Significance

Protective

Variant Type

Reference Allele

dbSNP

6013897

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264700.G.1.1United Arab Emirates1300.48ProtectiveVitamin D Hydroxylation-Deficient Rickets, Type 1AAl Anouti et al. 2017 Cohort involving 162 total healthy Emira...
264700.G.1.2United Arab Emirates360.67Al Anouti et al. 2017 Control group with sufficient Vitamin D ...
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