Upload clinvar-annotations-json.csv

clinvar-annotations-json.csv

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+gene,gene_id,clinical_significance,review_status,variant_type,consequence,protein_change,allele_freq_gnomad,rsid,genotype,chromosome,position,zygosity,conditions,pubmed_ids
+MTHFR,4524,Pathogenic/Likely pathogenic,criteria provided multiple submitters,SNV,missense,p.Ala222Val,0.337,rs1801133,GG,1,11856378,homozygous,Homocystinuria,9042909
+MTHFR,4524,Pathogenic/Likely pathogenic,criteria provided multiple submitters,SNV,missense,p.Ala222Val,0.337,rs1801133,GG,1,11856378,homozygous,Neural tube defects,10215325
+MTHFR,4524,Pathogenic/Likely pathogenic,criteria provided multiple submitters,SNV,missense,p.Ala222Val,0.337,rs1801133,GG,1,11856378,homozygous,Methylenetetrahydrofolate reductase deficiency,15565111
+OXTR,5021,Benign,criteria provided single submitter,SNV,intron_variant,,0.378,rs53576,AG,3,8804371,heterozygous,Social behavior,19934046
+OXTR,5021,Benign,criteria provided single submitter,SNV,intron_variant,,0.378,rs53576,AG,3,8804371,heterozygous,Autism spectrum disorder,20724662
+PPARG,5468,Benign,criteria provided single submitter,SNV,missense,p.Pro12Ala,0.122,rs1801282,CG,3,12393125,heterozygous,Type 2 diabetes,9333238
+PPARG,5468,Benign,criteria provided single submitter,SNV,missense,p.Pro12Ala,0.122,rs1801282,CG,3,12393125,heterozygous,Obesity,10581039
+PPARG,5468,Benign,criteria provided single submitter,SNV,missense,p.Pro12Ala,0.122,rs1801282,CG,3,12393125,heterozygous,Metabolic syndrome,
+HFE,3077,Benign,reviewed by expert panel,SNV,missense,p.His63Asp,0.136,rs1799945,CC,6,26091179,homozygous,Hereditary hemochromatosis,9110990
+HFE,3077,Benign,reviewed by expert panel,SNV,missense,p.His63Asp,0.136,rs1799945,CC,6,26091179,homozygous,Iron overload,
+BDNF,627,Benign/Likely benign,criteria provided multiple submitters,SNV,missense,p.Val66Met,0.196,rs6265,CC,11,27679916,homozygous,Major depressive disorder,11174898
+BDNF,627,Benign/Likely benign,criteria provided multiple submitters,SNV,missense,p.Val66Met,0.196,rs6265,CC,11,27679916,homozygous,Episodic memory,14671180
+BDNF,627,Benign/Likely benign,criteria provided multiple submitters,SNV,missense,p.Val66Met,0.196,rs6265,CC,11,27679916,homozygous,Bipolar disorder susceptibility,
+ANKK1,255239,risk factor,criteria provided single submitter,SNV,missense,p.Glu713Lys,0.192,rs1800497,GG,11,113270828,homozygous,Alcohol dependence,1301956
+ANKK1,255239,risk factor,criteria provided single submitter,SNV,missense,p.Glu713Lys,0.192,rs1800497,GG,11,113270828,homozygous,ADHD,11349230
+ANKK1,255239,risk factor,criteria provided single submitter,SNV,missense,p.Glu713Lys,0.192,rs1800497,GG,11,113270828,homozygous,Reward deficiency syndrome,
+CYP1A2,1544,drug response,criteria provided single submitter,SNV,intron_variant,,0.681,rs762551,AC,15,75041917,heterozygous,Caffeine metabolism,10022961
+CYP1A2,1544,drug response,criteria provided single submitter,SNV,intron_variant,,0.681,rs762551,AC,15,75041917,heterozygous,Drug metabolism — clozapine,15364890
+CYP1A2,1544,drug response,criteria provided single submitter,SNV,intron_variant,,0.681,rs762551,AC,15,75041917,heterozygous,PharmGKB — caffeine,
+FTO,79068,risk factor,criteria provided multiple submitters,SNV,intron_variant,,0.404,rs9939609,AT,16,53820527,heterozygous,Obesity,17293877
+FTO,79068,risk factor,criteria provided multiple submitters,SNV,intron_variant,,0.404,rs9939609,AT,16,53820527,heterozygous,Type 2 diabetes,17468765
+FTO,79068,risk factor,criteria provided multiple submitters,SNV,intron_variant,,0.404,rs9939609,AT,16,53820527,heterozygous,Body mass index quantitative trait locus 8,
+APOE,348,risk factor,reviewed by expert panel,SNV,missense,p.Cys130Arg,0.154,rs429358,TT,19,45411941,homozygous,Alzheimer disease,8446170
+APOE,348,risk factor,reviewed by expert panel,SNV,missense,p.Cys130Arg,0.154,rs429358,TT,19,45411941,homozygous,Cardiovascular disease,1303239
+APOE,348,risk factor,reviewed by expert panel,SNV,missense,p.Cys130Arg,0.154,rs429358,TT,19,45411941,homozygous,Hyperlipoproteinemia type III,
+APOE,348,risk factor,reviewed by expert panel,SNV,missense,p.Arg176Cys,0.073,rs7412,CC,19,45412079,homozygous,Alzheimer disease,8446170
+APOE,348,risk factor,reviewed by expert panel,SNV,missense,p.Arg176Cys,0.073,rs7412,CC,19,45412079,homozygous,Cardiovascular disease,1303239
+COMT,1312,Benign/Likely benign,criteria provided single submitter,SNV,missense,p.Val158Met,0.502,rs4680,GG,22,19951271,homozygous,Pain sensitivity,9632102
+COMT,1312,Benign/Likely benign,criteria provided single submitter,SNV,missense,p.Val158Met,0.502,rs4680,GG,22,19951271,homozygous,Schizophrenia susceptibility,12142688
+COMT,1312,Benign/Likely benign,criteria provided single submitter,SNV,missense,p.Val158Met,0.502,rs4680,GG,22,19951271,homozygous,Catechol-O-methyltransferase deficiency,
+ADORA2A,135,Benign,criteria provided single submitter,SNV,synonymous_variant,,0.463,rs5751876,CT,22,24837301,heterozygous,Caffeine-induced anxiety,17074977
+ADORA2A,135,Benign,criteria provided single submitter,SNV,synonymous_variant,,0.463,rs5751876,CT,22,24837301,heterozygous,Sleep sensitivity to caffeine,