nr1h3[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	NR1H3, FAUP4, 2031 more genes
nsv3913842	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 39,200,802-49,157,287 , NCBI36 chr11: 39,157,378-49,113,863 , GRCh38 chr11: 39,179,252-49,135,735	NR1H3, MIR3160-1, 162 more genes
nsv3924778	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 41,118,322-48,643,003 , GRCh37 chr11: 41,139,872-48,664,555 , NCBI36 chr11: 41,096,448-48,621,131	NR1H3, F2, 140 more genes
nsv3914709	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 46,840,454-48,643,003 , GRCh37 chr11: 46,862,005-48,664,555 , NCBI36 chr11: 46,818,581-48,621,131	NR1H3, CELF1, 56 more genes
nsv3871318	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 46,880,514-47,470,726 , GRCh38.p12 chr11: 46,858,963-47,449,174	NR1H3, LOC112268075, 17 more genes
nsv6309366	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 46,880,534-47,470,516 , GRCh38.p12 chr11: 46,858,983-47,448,964	NR1H3, DDB2, 17 more genes
nsv3919311	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 47,188,786-47,405,458 , GRCh37 chr11: 47,232,210-47,448,882 , GRCh38 chr11: 47,210,659-47,427,331	NR1H3, MADD-AS1, 8 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	NR1H3, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	NR1H3, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	NR1H3, IGHMBP2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	NR1H3, PYGM, 2125 more genes
nsv6315474	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 43,607,886-61,466,671 , GRCh38.p12 chr11: 43,586,336-61,699,199	NR1H3, TRR-TCT3-2, 494 more genes
nsv5380725	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr11: 45,827,353-47,804,770 , GRCh38.p12 chr11: 45,805,802-47,783,218	NR1H3, MIR4688, 58 more genes
nsv3914563	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr11: 42,705,681-49,113,863 , GRCh37 chr11: 42,749,105-49,157,287 , GRCh38 chr11: 42,727,555-49,135,735	NR1H3, ACP2, 143 more genes

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nr1h3[All Fields] AND 1[has_clinical] (15)
dbVar
Mus musculus spermidine/spermine N1-acetyl transferase 1 (Sat1), mRNA
Mus musculus spermidine/spermine N1-acetyl transferase 1 (Sat1), mRNA
gi|42476316|ref|NM_009121.3|

Nucleotide

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