Record no | GENE NAME | SNP ID | CHANGES | ANCESTRAL ALLELES | FUNCTIONAL CONSEQUENCES | DISEASE | POPULATION | Pubmed ID | Comments |
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1 | ORMDL3 | rs11650680 | C/T | C | - | Asthma | Pakistani population | 29588858 | In rs11650680 of ORMDL3 gene the CT genotype is more prevalent in female asthma cases in comparison with female controls. |
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2 | ORMDL3 | rs8076131 | A/C/G | A | Intron Variant | Allergic Asthma | Chinese population | 26483175 | The 17q12-21 locus has a strong genetic association with Allergic Asthma but not with Allergic Rhinitis. The polymorphic effect of this locus is attributed to the linkage set tagged by rs8076131, which affects the expression of ORMDL3, PPP1R1B, ZPBP2 and GSDMB and is correlated with high IgE levels and eosinophil counts in subjects bearing the risk genotype. |
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3 | ORMDL3 | rs8076131 | A/C/G | A | Intron Variant | Asthma | American Indian population | 28668238 | rs8076131 was suggestive of case control status considering the major allele in a dominant model. This SNP was associated with asthma. |
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4 | OXA1L | rs4981436 | C/T | T | Intron Variant | Asthma, Atopy | South American population | 30032071 | Significant association between C allele of OXA1L SNP rs4981436 and asthma was noted in South American population. |
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5 | OXA1L | rs17619 | A/G | G | Missense Variant | Asthma, Atopy | South American population | 30032071 | Significant association between A allele of OXA1L SNP rs17619 and production of IFNG stimulated with Blomia tropicalis was noted in South American population. |
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6 | OXA1L | rs8572 | A/G (REV) | G | Missense Variant | Asthma, Atopy | South American population | 30032071 | Significant association between G allele of OXA1L SNP rs8572 with positive skin prick test for dog epithelium, Periplanata americana, Dermatophagoides pteronyssinus and specific IgE for Dermatophagoides pteronyssinus was noted in South American population. |
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7 | ORMDL3 | rs12603332 | C/T | T | Intron Variant | Male Asthma | Pakistani population | 28055272 | The risk allele (C allele) for rs12603332 was found to be significantly associated with male asthma patients residing in urban localities of Lahore. |
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8 | ORMDL3 | rs4065275 | A/G/T | A | Intron Variant | Asthma | - | 27848966 | The asthma-risk variants rs4065275 and rs12936231 switched CTCF-binding sites in the 17q21 locus and 4C-Seq assays showed that several distal cis-regulatory elements upstream of the disrupted ZPBP2 CTCF-binding site interacted with the ORMDL3 promoter region in CD4+ T cells exclusively from subjects carrying asthma-risk alleles. |
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9 | ORMDL3 | rs12603332 | C/T | T | Intron Variant | FEV1, FVC | Greenlandic population | 28740106 | The homozygous CC genotype of rs12603332 in ORMDL3 was associated with higher values of FEV1 and FVC than the homozygous CT genotype in Greenlandic population. |
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10 | ORMDL3 | rs4065275 | A/G/T | A | Intron Variant | FEV1, FVC | Greenlandic population | 28740106 | The GG genotype of rs4065275 in ORMDL3 was associated with higher values of FEV1 and FVC than the GA genotype in Greenlandic Inuit. |
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11 | ORMDL3 | rs4795405 | A/C/T | T | Intron Variant | Asthma | Dutch population | 27439200 | rs4795405 was significantly associated with asthma. |
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12 | ORMDL3 | rs7216389 | C/T | T | Intron Variant | Asthma | - | 26064206 | rs7216389 was significantly associated with increased asthma risk in overall population. Children with variant T allele (TT or TC) and adults with TT homozygote in rs7216389 are at high risks to suffer from asthma. |
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13 | ORMDL3 | rs11650680 | C/T | C | - | Asthma | - | 26064206 | People with T allele in rs11650680 are protected from asthma. |
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14 | ORMDL3 | rs12603332 | C/T | T | Intron Variant | Asthma | - | 26064206 | People with T allele in rs12603332 are protected from asthma. |
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15 | ORMDL3 | rs7216389 | C/T | T | Intron Variant | Childhood Asthma | Chinese population | 23096927 | The ORMDL3 gene influences childhood asthma and the TT genotype of the rs7216389 polymorphism is associated with childhood asthma in the Chinese population. |
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