chr12:21382619:T>C Detail (hg19) (SLCO1B1)

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Information

Genome

Assembly	Position
hg19	chr12:21,382,619-21,382,619
hg38	chr12:21,229,685-21,229,685 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_006446.4:c.1865+4846T>C
Ensemble	ENST00000256958.3:c.1865+4846T>C

Summary

Links

Type	Database	ID	Link
Gene	MIM	604843	OMIM
	HGNC	10959	HGNC
	Ensembl	ENSG00000134538	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv45193263	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
0.122	diffuse large B-cell lymphoma	The present study evaluated the impact of single gene polymorphisms (SNPs: rs180...	BeFree	23829278	Detail
0.013	diffuse large B-cell lymphoma	The present study evaluated the impact of single gene polymorphisms (SNPs: rs180...	BeFree	23829278	Detail

Annotation

Descrption	Source	Links
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i...	DisGeNET	Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11045879 dbSNP
Genome: hg19
Position: chr12:21,382,619-21,382,619
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs11045879
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3807
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 6381
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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