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

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

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=
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
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

DescrptionSourceLinks
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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