chr1:65167814:T>C Detail (hg38) (AK4)

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Information

Genome

Assembly	Position
hg19	chr1:65,633,497-65,633,497 View the variant detail on this assembly version.
hg38	chr1:65,167,814-65,167,814

Summary

Links

Type	Database	ID	Link
Gene	MIM	103030	OMIM
	HGNC	363	HGNC
	Ensembl	ENSG00000162433	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv1812641	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	cryoglobulinemia	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 A...	BeFree	25661337	Detail
<0.001	cryoglobulinemia	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 A...	BeFree	25661337	Detail

Annotation

Descrption	Source	Links
Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and posit...	DisGeNET	Detail
Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and posit...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1109374 dbSNP
Genome: hg38
Position: chr1:65,167,814-65,167,814
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)): rs1109374
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.5629
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 9434
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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