chr12:68551196:G>A Detail (hg19) (IFNG)

Go to:

Information

Genome

Assembly	Position
hg19	chr12:68,551,196-68,551,196
hg38	chr12:68,157,416-68,157,416 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_000619.2:c.366+497C>T
Ensemble	ENST00000229135.4:c.366+497C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	147570	OMIM
	HGNC	5438	HGNC
	Ensembl	ENSG00000111537	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv46302276	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
<0.001	Acute Q fever	Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 ...	BeFree	25577174	Detail
0.007	Tuberculosis, Pulmonary	Using multiple corrections, significant overall risk against PTB was observed at...	BeFree	22771610	Detail

Annotation

Descrption	Source	Links
Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 (rs1914408), and VDR...	DisGeNET	Detail
Using multiple corrections, significant overall risk against PTB was observed at seven loci which in...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1861493 dbSNP
Genome: hg19
Position: chr12:68,551,196-68,551,196
Variant Type: snv
Reference Allele: G
Alternative Allele: A
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)): rs1861493
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.507
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 8497
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser