chr3:119781188:C>T Detail (hg38) (NR1I2)

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Information

Genome

Assembly	Position
hg19	chr3:119,500,035-119,500,035 View the variant detail on this assembly version.
hg38	chr3:119,781,188-119,781,188

Type	Transcript	Protein
RefSeq	NM_033013.2:c.-1135C>T
Ensemble	ENST00000466380.6:c.-1135C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	603065	OMIM
	HGNC	7968	HGNC
	Ensembl	ENSG00000144852	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv13934114	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	Crohn Disease	Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit...	BeFree	21830270	Detail

Annotation

Descrption	Source	Links
Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3814055 dbSNP
Genome: hg38
Position: chr3:119,781,188-119,781,188
Variant Type: snv
Reference Allele: C
Alternative Allele: T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs3814055
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2689
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 4507
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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