chr5:151059427:C>T Detail (hg38) (TNIP1)

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Information

Genome

Assembly	Position
hg19	chr5:150,438,988-150,438,988 View the variant detail on this assembly version.
hg38	chr5:151,059,427-151,059,427

Summary

Links

Type	Database	ID	Link
Gene	MIM	607714	OMIM
	HGNC	16903	HGNC
	Ensembl	ENSG00000145901	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv23267790	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
0.266	asthma	Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (T...	BeFree	22694930	Detail
<0.001	asthma	Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (T...	BeFree	22694930	Detail
0.003	asthma	NA	GAD		Detail

Annotation

Descrption	Source	Links
Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (TNIP1) gene, which in...	DisGeNET	Detail
Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (TNIP1) gene, which in...	DisGeNET	Detail
NA	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1422673 dbSNP
Genome: hg38
Position: chr5:151,059,427-151,059,427
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs1422673
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.494
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 8279
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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