chr11:13492716:C>A Detail (hg38) (PTH)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:13,514,263-13,514,263 View the variant detail on this assembly version.
hg38	chr11:13,492,716-13,492,716

HGVS

PTH

Type	Transcript	Protein
RefSeq	NM_000315.3:c.87-50G>T
	NM_001316352.1:c.87-50G>T
Ensemble	ENST00000282091.6:c.87-50G>T
	ENST00000529816.1:c.87-50G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PTH

Type	Database	ID	Link
Gene	MIM	168450	OMIM
	HGNC	9606	HGNC
	Ensembl	ENSG00000152266	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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	aortic valve stenosis	Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within th...	BeFree	24903972	Detail
0.003	aortic valve stenosis	Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within th...	BeFree	24903972	Detail

Annotation

Annotations

Descrption	Source	Links
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 ...	DisGeNET	Detail
Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 ...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr11:13,492,716-13,492,716
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8570
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120366
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.307993951780402E-6

Genome browser