Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499549
rs1060499549
ZNF462
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499549
rs1060499549
ZNF462
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499549
rs1060499549
ZNF462
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499549
rs1060499549
ZNF462
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499550
rs1060499550
ZNF462
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499551
rs1060499551
ZNF462
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs10978677
rs10978677
ZNF462
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019
dbSNP: rs10978698
rs10978698
ZNF462 ; LOC340512
CUI: C0596887
Disease: mathematical ability
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018
dbSNP: rs1876985
rs1876985
ZNF462 ; LOC340512
CUI: C0596887
Disease: mathematical ability
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018
dbSNP: rs35699219
rs35699219
ZNF462
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs4743034
rs4743034
ZNF462
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		A 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015

2018
dbSNP: rs4743034
rs4743034
ZNF462
CUI: C0489786
Disease: Height
Height 		A 0.700 GeneticVariation GWASDB Many sequence variants affecting diversity of adult human height. 18391951

2008
dbSNP: rs4743034
rs4743034
ZNF462
CUI: C0005890
Disease: Body Height
Body Height 		A 0.700 GeneticVariation GWASCAT Many sequence variants affecting diversity of adult human height. 18391951

2008
dbSNP: rs6477547
rs6477547
ZNF462
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698

2019
dbSNP: rs7020564
rs7020564
ZNF462
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018
dbSNP: rs73667301
rs73667301
ZNF462
CUI: C0002170
Disease: Alopecia
Alopecia 		G 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072

2017
dbSNP: rs7858917
rs7858917
ZNF462
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs7874161
rs7874161
ZNF462
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500

2017
dbSNP: rs17723637
rs17723637
ZNF462
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE Two novel SNPs, rs6441286 and rs17723637, were identified for overall lung cancer risk. 29059373

2018
dbSNP: rs17723637
rs17723637
ZNF462
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Two novel SNPs, rs6441286 and rs17723637, were identified for overall lung cancer risk. 29059373

2018
dbSNP: rs17723637
rs17723637
ZNF462
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Two novel SNPs, rs6441286 and rs17723637, were identified for overall lung cancer risk. 29059373

2018