NM_000235.3:c.229+2506G>A

HGVS Expressions

  • NG_008194.1:g.13734G>A
  • NM_000235.3:c.229+2506G>A
  • NC_000010.11:g.89243170C>T

Associated Genes

Lipase A, Lysosomal Acid
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CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

1412444

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608320.G.2.3United Arab EmiratesNA0.470AssociationCoronary Artery Disease, Autosomal Dominant, 1Osman et al. 2020 Study with 914 individuals. 22 SNPs show...
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