chr17:45834159:C>T Detail (hg38) (CRHR1, LINC02210-CRHR1)

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Information

Genome

Assembly	Position
hg19	chr17:43,911,525-43,911,525 View the variant detail on this assembly version.
hg38	chr17:45,834,159-45,834,159

Type	Transcript	Protein
RefSeq	NM_001256299.2:c.582+111C>T
Ensemble	ENST00000634540.1:c.582+111C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	122561	OMIM
	HGNC	2357	HGNC
	Ensembl	ENSG00000120088	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv57931815	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	51483	HGNC
	Ensembl	ENSG00000263715	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv57931815	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
0.087	depressive disorder	The BclI and ER22/23EK single nucleotide polymorphisms (SNPs) of the GR and the ...	BeFree	23726670	Detail

Annotation

Descrption	Source	Links
The BclI and ER22/23EK single nucleotide polymorphisms (SNPs) of the GR and the haplotype-tagged rs1...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1876828 dbSNP
Genome: hg38
Position: chr17:45,834,159-45,834,159
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)): rs1876828
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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