Upload clinvar-annotations-json.csv

clinvar-annotations-json.csv

@@ -0,0 +1,33 @@
+gene,gene_id,clinical_significance,review_status,variant_type,consequence,protein_change,allele_freq_gnomad,rsid,genotype,chromosome,position,zygosity,conditions - conditions,pubmed_ids - pubmed_ids
+MTHFR,4524,Pathogenic/Likely pathogenic,"criteria provided, multiple submitters",SNV,missense,p.Ala222Val,0.337,rs1801133,GG,1,11856378,homozygous,Homocystinuria,9042909
+,,,,,,,,,,,,,Neural tube defects,10215325
+,,,,,,,,,,,,,Methylenetetrahydrofolate reductase deficiency,15565111
+OXTR,5021,Benign,"criteria provided, single submitter",SNV,intron_variant,,0.378,rs53576,AG,3,8804371,heterozygous,Social behavior,19934046
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,Obesity,10581039
+,,,,,,,,,,,,,Metabolic syndrome,
+HFE,3077,Benign,reviewed by expert panel,SNV,missense,p.His63Asp,0.136,rs1799945,CC,6,26091179,homozygous,Hereditary hemochromatosis,9110990
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,Episodic memory,14671180
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,ADHD,11349230
+,,,,,,,,,,,,,Reward deficiency syndrome,
+CYP1A2,1544,drug response,"criteria provided, single submitter",SNV,intron_variant,,0.681,rs762551,AC,15,75041917,heterozygous,Caffeine metabolism,10022961
+,,,,,,,,,,,,,Drug metabolism — clozapine,15364890
+,,,,,,,,,,,,,PharmGKB — caffeine,
+FTO,79068,risk factor,"criteria provided, multiple submitters",SNV,intron_variant,,0.404,rs9939609,AT,16,53820527,heterozygous,Obesity,17293877
+,,,,,,,,,,,,,Type 2 diabetes,17468765
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,Cardiovascular disease,1303239
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,Schizophrenia susceptibility,12142688
+,,,,,,,,,,,,,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
+,,,,,,,,,,,,,Sleep sensitivity to caffeine,