chr11:116652207:C>T Detail (hg19) (ZPR1)

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Information

Genome

Assembly	Position
hg19	chr11:116,652,207-116,652,207
hg38	chr11:116,781,491-116,781,491 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_003904.4:c.1179+667G>A
Ensemble	ENST00000227322.8:c.1179+667G>A

Summary

Links

Type	Database	ID	Link
Gene	MIM	603901	OMIM
	HGNC	13051	HGNC
	Ensembl	ENSG00000109917	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv44156512	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
0.125	Metabolic syndrome X	[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that...	GAD	21386085	Detail
0.125	Metabolic syndrome X	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	GWASCAT	21386085	Detail

Annotation

Descrption	Source	Links
[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ...	DisGeNET	Detail
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs12286037 dbSNP
Genome: hg19
Position: chr11:116,652,207-116,652,207
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)): rs12286037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0008
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 13
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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