264700.G.1.1 - CAGS

264700.G.1.1

Country

United Arab Emirates

HPO Terms

Low levels of vitamin D

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Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NG_007936.1:g.3874T>C	185	0.92
NM_000782.4:c.733-149=	126	0.47	Vitamin D Hydroxylation-Deficient Rickets, Type 1A
NC_000020.11:g.54125940=	130	0.48	Vitamin D Hydroxylation-Deficient Rickets, Type 1A
NC_000012.12:g.57768302=	205	0.57	Vitamin D Hydroxylation-Deficient Rickets, Type 1A
NM_000785.4:c.1137-29=	195	0.53	Vitamin D Hydroxylation-Deficient Rickets, Type 1A

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Remarks

Cohort involving 162 total healthy Emirati students, split into those with insufficient levels (≤ 50nmol/L) and normal levels of Vitamin D.

References

Al Anouti et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
264700.G.1.2	United Arab Emirates					Control group with sufficient Vitamin D levels.
264700.G.1.3	United Arab Emirates	Low levels of vitamin D				Cohort involving 162 total healthy Emirati students, split into those with insufficient levels (≤ 50nmol/L) and normal levels of Vitamin D. Haplotype association.

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.