Split (1)

train · 32 rows

gene stringlengths 3 7	gene_id int64 135 255k	clinical_significance stringclasses 5 values	review_status stringclasses 3 values	variant_type stringclasses 1 value	consequence stringclasses 3 values	protein_change stringclasses 8 values	allele_freq_gnomad float64 0.07 0.68	rsid stringlengths 6 9	genotype stringclasses 8 values	chromosome int64 1 22	position int64 8.8M 113M	zygosity stringclasses 2 values	conditions stringlengths 4 46	pubmed_ids float64 1.3M 20.7M ⌀
MTHFR	4,524	Pathogenic/Likely pathogenic	criteria provided multiple submitters	SNV	missense	p.Ala222Val	0.337	rs1801133	GG	1	11,856,378	homozygous	Homocystinuria	9,042,909
MTHFR	4,524	Pathogenic/Likely pathogenic	criteria provided multiple submitters	SNV	missense	p.Ala222Val	0.337	rs1801133	GG	1	11,856,378	homozygous	Neural tube defects	10,215,325
MTHFR	4,524	Pathogenic/Likely pathogenic	criteria provided multiple submitters	SNV	missense	p.Ala222Val	0.337	rs1801133	GG	1	11,856,378	homozygous	Methylenetetrahydrofolate reductase deficiency	15,565,111
OXTR	5,021	Benign	criteria provided single submitter	SNV	intron_variant	null	0.378	rs53576	AG	3	8,804,371	heterozygous	Social behavior	19,934,046
OXTR	5,021	Benign	criteria provided single submitter	SNV	intron_variant	null	0.378	rs53576	AG	3	8,804,371	heterozygous	Autism spectrum disorder	20,724,662
PPARG	5,468	Benign	criteria provided single submitter	SNV	missense	p.Pro12Ala	0.122	rs1801282	CG	3	12,393,125	heterozygous	Type 2 diabetes	9,333,238
PPARG	5,468	Benign	criteria provided single submitter	SNV	missense	p.Pro12Ala	0.122	rs1801282	CG	3	12,393,125	heterozygous	Obesity	10,581,039
PPARG	5,468	Benign	criteria provided single submitter	SNV	missense	p.Pro12Ala	0.122	rs1801282	CG	3	12,393,125	heterozygous	Metabolic syndrome	null
HFE	3,077	Benign	reviewed by expert panel	SNV	missense	p.His63Asp	0.136	rs1799945	CC	6	26,091,179	homozygous	Hereditary hemochromatosis	9,110,990
HFE	3,077	Benign	reviewed by expert panel	SNV	missense	p.His63Asp	0.136	rs1799945	CC	6	26,091,179	homozygous	Iron overload	null
BDNF	627	Benign/Likely benign	criteria provided multiple submitters	SNV	missense	p.Val66Met	0.196	rs6265	CC	11	27,679,916	homozygous	Major depressive disorder	11,174,898
BDNF	627	Benign/Likely benign	criteria provided multiple submitters	SNV	missense	p.Val66Met	0.196	rs6265	CC	11	27,679,916	homozygous	Episodic memory	14,671,180
BDNF	627	Benign/Likely benign	criteria provided multiple submitters	SNV	missense	p.Val66Met	0.196	rs6265	CC	11	27,679,916	homozygous	Bipolar disorder susceptibility	null
ANKK1	255,239	risk factor	criteria provided single submitter	SNV	missense	p.Glu713Lys	0.192	rs1800497	GG	11	113,270,828	homozygous	Alcohol dependence	1,301,956
ANKK1	255,239	risk factor	criteria provided single submitter	SNV	missense	p.Glu713Lys	0.192	rs1800497	GG	11	113,270,828	homozygous	ADHD	11,349,230
ANKK1	255,239	risk factor	criteria provided single submitter	SNV	missense	p.Glu713Lys	0.192	rs1800497	GG	11	113,270,828	homozygous	Reward deficiency syndrome	null
CYP1A2	1,544	drug response	criteria provided single submitter	SNV	intron_variant	null	0.681	rs762551	AC	15	75,041,917	heterozygous	Caffeine metabolism	10,022,961
CYP1A2	1,544	drug response	criteria provided single submitter	SNV	intron_variant	null	0.681	rs762551	AC	15	75,041,917	heterozygous	Drug metabolism — clozapine	15,364,890
CYP1A2	1,544	drug response	criteria provided single submitter	SNV	intron_variant	null	0.681	rs762551	AC	15	75,041,917	heterozygous	PharmGKB — caffeine	null
FTO	79,068	risk factor	criteria provided multiple submitters	SNV	intron_variant	null	0.404	rs9939609	AT	16	53,820,527	heterozygous	Obesity	17,293,877
FTO	79,068	risk factor	criteria provided multiple submitters	SNV	intron_variant	null	0.404	rs9939609	AT	16	53,820,527	heterozygous	Type 2 diabetes	17,468,765
FTO	79,068	risk factor	criteria provided multiple submitters	SNV	intron_variant	null	0.404	rs9939609	AT	16	53,820,527	heterozygous	Body mass index quantitative trait locus 8	null
APOE	348	risk factor	reviewed by expert panel	SNV	missense	p.Cys130Arg	0.154	rs429358	TT	19	45,411,941	homozygous	Alzheimer disease	8,446,170
APOE	348	risk factor	reviewed by expert panel	SNV	missense	p.Cys130Arg	0.154	rs429358	TT	19	45,411,941	homozygous	Cardiovascular disease	1,303,239
APOE	348	risk factor	reviewed by expert panel	SNV	missense	p.Cys130Arg	0.154	rs429358	TT	19	45,411,941	homozygous	Hyperlipoproteinemia type III	null
APOE	348	risk factor	reviewed by expert panel	SNV	missense	p.Arg176Cys	0.073	rs7412	CC	19	45,412,079	homozygous	Alzheimer disease	8,446,170
APOE	348	risk factor	reviewed by expert panel	SNV	missense	p.Arg176Cys	0.073	rs7412	CC	19	45,412,079	homozygous	Cardiovascular disease	1,303,239
COMT	1,312	Benign/Likely benign	criteria provided single submitter	SNV	missense	p.Val158Met	0.502	rs4680	GG	22	19,951,271	homozygous	Pain sensitivity	9,632,102
COMT	1,312	Benign/Likely benign	criteria provided single submitter	SNV	missense	p.Val158Met	0.502	rs4680	GG	22	19,951,271	homozygous	Schizophrenia susceptibility	12,142,688
COMT	1,312	Benign/Likely benign	criteria provided single submitter	SNV	missense	p.Val158Met	0.502	rs4680	GG	22	19,951,271	homozygous	Catechol-O-methyltransferase deficiency	null
ADORA2A	135	Benign	criteria provided single submitter	SNV	synonymous_variant	null	0.463	rs5751876	CT	22	24,837,301	heterozygous	Caffeine-induced anxiety	17,074,977
ADORA2A	135	Benign	criteria provided single submitter	SNV	synonymous_variant	null	0.463	rs5751876	CT	22	24,837,301	heterozygous	Sleep sensitivity to caffeine	null

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