chr5:150440097:G>A Detail (hg19) (TNIP1)

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Information

Genome

Assembly	Position
hg19	chr5:150,440,097-150,440,097
hg38	chr5:151,060,536-151,060,536 View the variant detail on this assembly version.

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	tgv23267863	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
0.241	systemic scleroderma	Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sys...	GWASCAT	21750679	Detail
0.002	Sclerosis	[Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sy...	GAD	21750679	Detail
0.003	asthma	NA	GAD		Detail

Annotation

Descrption	Source	Links
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.	DisGeNET	Detail
[Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.]	DisGeNET	Detail
NA	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2233287 dbSNP
Genome: hg19
Position: chr5:150,440,097-150,440,097
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)): rs2233287
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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