chr19:52249959:G>A Detail (hg19) (FPR1)

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

Genome

Assembly	Position
hg19	chr19:52,249,959-52,249,959
hg38	chr19:51,746,706-51,746,706 View the variant detail on this assembly version.

HGVS

FPR1

Type	Transcript	Protein
RefSeq	NM_002029.3:c.289C>T	NP_002020.1:p.Leu97=
	NM_001193306.1:c.289C>T	NP_001180235.1:p.Leu97=
Ensemble	ENST00000304748.5:c.289C>T	ENST00000304748.5:p.Leu97=
	ENST00000594900.2:c.289C>T	ENST00000594900.2:p.Leu97=
	ENST00000595042.5:c.289C>T	ENST00000595042.5:p.Leu97=
	ENST00000600815.2:c.289C>T	ENST00000600815.2:p.Leu97=

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

FPR1

Type	Database	ID	Link
Gene	MIM	136537	OMIM
	HGNC	3826	HGNC
	Ensembl	ENSG00000171051	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
0.011	macular degeneration	Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA wer...	BeFree	25277308	Detail
0.480	age related macular degeneration	Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA wer...	BeFree	25277308	Detail
0.267	age related macular degeneration	Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was ...	BeFree	25277308	Detail
0.005	macular degeneration	Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was ...	BeFree	25277308	Detail

Annotation

Annotations

Descrption	Source	Links
Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2....	DisGeNET	Detail
Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2....	DisGeNET	Detail
Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was also predisposed ris...	DisGeNET	Detail
Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was also predisposed ris...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr19:52,249,959-52,249,959
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8650
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): 121408
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6473379019504482E-5

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