chr6:12927544:C>G Detail (hg19) (PHACTR1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:12,927,544-12,927,544
hg38	chr6:12,927,312-12,927,312 View the variant detail on this assembly version.

HGVS

PHACTR1

Type	Transcript	Protein
RefSeq	NM_001242648.2:c.251-126053C>G
	NM_001322308.1:c.251-126053C>G
	NM_001322309.1:c.251-126053C>G
	NM_001322310.1:c.251-126053C>G
	NM_001322311.1:c.251-126053C>G
	NM_001322312.1:c.251-126053C>G
	NM_001322313.1:c.251-126053C>G
	NM_001322314.1:c.251-126053C>G
	NM_030948.3:c.251-126053C>G
Ensemble	ENST00000332995.12:c.251-126053C>G
	ENST00000674595.1:c.251-126053C>G
	ENST00000674637.1:c.251-126053C>G
	ENST00000676159.1:c.251-126053C>G
	ENST00000689548.1:c.113-126053C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.024
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PHACTR1

Type	Database	ID	Link
Gene	MIM	608723	OMIM
	HGNC	20990	HGNC
	Ensembl	ENSG00000112137	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv24312666	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
0.253	coronary artery disease	Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional lo...	BeFree	23561647	Detail
0.245	myocardial infarction	[Genome-wide association of early-onset myocardial infarction with single nucleo...	GAD	19198609	Detail
0.246	coronary artery disease	Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional lo...	BeFree	23561647	Detail
0.245	myocardial infarction	Genome-wide association of early-onset myocardial infarction with single nucleot...	GWASCAT	19198609	Detail
0.253	coronary artery disease	[Large-scale association analysis identifies 13 new susceptibility loci for coro...	GAD	21378990	Detail
0.126	Coronary heart disease	Large-scale association analysis identifies 13 new susceptibility loci for coron...	GWASCAT	21378990	Detail
<0.001	coronary artery disease	Further meta-analyses showed that the rs12526453 of PHACTR11 gene (OR = 1.14, p ...	BeFree	25123136	Detail
0.126	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail
0.025	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail
0.004	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail
0.128	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail
0.016	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail
0.127	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail
0.126	Coronary heart disease	Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1...	BeFree	22152955	Detail

Annotation

Annotations

Descrption	Source	Links
Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs382...	DisGeNET	Detail
[Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms a...	DisGeNET	Detail
Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs382...	DisGeNET	Detail
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms an...	DisGeNET	Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease....	DisGeNET	Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	DisGeNET	Detail
Further meta-analyses showed that the rs12526453 of PHACTR11 gene (OR = 1.14, p < 0.0001, random-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail
Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs12526453 dbSNP
Genome: hg19
Position: chr6:12,927,544-12,927,544
Variant Type: snv
Reference Allele: C
Alternative Allele: G
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)): rs12526453
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.024
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 402
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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