Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7957346
rs7957346
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C0034067
Disease:
Pulmonary Emphysema 		0.710 GeneticVariation BEFREE Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry. 24383474 2014
dbSNP: rs7957346
rs7957346
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C0034067
Disease:
Pulmonary Emphysema 		C 0.710 GeneticVariation GWASDB Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry. 24383474 2014
dbSNP: rs7954638
rs7954638
Entrez Id: 120935
Gene Symbol: CCDC38
CCDC38
CUI: C0202202
Disease:
Protein measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778 2016
dbSNP: rs7954638
rs7954638
Entrez Id: 120935
Gene Symbol: CCDC38
CCDC38
CUI: C0201874
Disease:
Amino acids measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778 2016
dbSNP: rs1036429
rs1036429
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C0016529
Disease:
Forced expiratory volume function 		0.700 GeneticVariation GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
dbSNP: rs1036429
rs1036429
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C0035227
Disease:
Respiratory Function Tests 		0.700 GeneticVariation GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
dbSNP: rs1036429
rs1036429
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C0231921
Disease:
Pulmonary function 		T 0.700 GeneticVariation GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
dbSNP: rs1036429
rs1036429
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C0035227
Disease:
Respiratory Function Tests 		T 0.700 GeneticVariation GWASCAT Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
dbSNP: rs1036429
rs1036429
Entrez Id: 6636;120935
Gene Symbol: SNRPF;CCDC38
SNRPF;CCDC38
CUI: C3160731
Disease:
Pulmonary function (finding) 		T 0.700 GeneticVariation GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011