chr1:160839213:G>A Detail (hg38) (CD244)

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Information

Genome

Assembly	Position
hg19	chr1:160,809,003-160,809,003 View the variant detail on this assembly version.
hg38	chr1:160,839,213-160,839,213

Summary

Links

Type	Database	ID	Link
Gene	MIM	605554	OMIM
	HGNC	18171	HGNC
	Ensembl	ENSG00000122223	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv3504272	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
0.255	rheumatoid arthritis	However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (...	BeFree	19435719	Detail
0.249	rheumatoid arthritis	However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (...	BeFree	19435719	Detail

Annotation

Descrption	Source	Links
However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (CD244) with RA susce...	DisGeNET	Detail
However, there was no evidence for association of rs42041 (CDK6) and rs6682654 (CD244) with RA susce...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6682654 dbSNP
Genome: hg38
Position: chr1:160,839,213-160,839,213
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)): rs6682654
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)): 6380
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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