chr9:5074189:T>C Detail (hg38) (JAK2)

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Information

Genome

Assembly	Position
hg19	chr9:5,074,189-5,074,189 View the variant detail on this assembly version.
hg38	chr9:5,074,189-5,074,189

Summary

Links

Type	Database	ID	Link
Gene	MIM	147796	OMIM
	HGNC	6192	HGNC
	Ensembl	ENSG00000096968	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv35314614	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
0.285	Leukemia, Myelocytic, Acute	Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplot...	BeFree	21791467	Detail
0.294	Primary myelofibrosis	We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mut...	BeFree	22251709	Detail

Annotation

Descrption	Source	Links
Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplotype was genotyped by...	DisGeNET	Detail
We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mutational status and 1...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs12343867 dbSNP
Genome: hg38
Position: chr9:5,074,189-5,074,189
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)): rs12343867
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2577
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 4319
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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