chr16:55477625:G>A Detail (hg38) (MMP2)

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Information

Genome

Assembly	Position
hg19	chr16:55,511,537-55,511,537 View the variant detail on this assembly version.
hg38	chr16:55,477,625-55,477,625

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000570308.5:c.-75-5284G>A

Summary

Links

Type	Database	ID	Link
Gene	MIM	120360	OMIM
	HGNC	7166	HGNC
	Ensembl	ENSG00000087245	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv55581047	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	Glaucoma, Open-Angle	Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750)...	BeFree	20808730	Detail
0.001	congestive heart failure	The findings of the current study suggest that MMP-2 rs243866 A allele was assoc...	BeFree	19295411	Detail

Annotation

Descrption	Source	Links
Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs...	DisGeNET	Detail
The findings of the current study suggest that MMP-2 rs243866 A allele was associated with lower ris...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs243866 dbSNP
Genome: hg38
Position: chr16:55,477,625-55,477,625
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)): rs243866
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0692
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1159
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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