chr19:6919624:A>C Detail (hg19) (ADGRE1)

Information

Genome

Assembly Position
hg19 chr19:6,919,624-6,919,624
hg38 chr19:6,919,613-6,919,613 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256253.1:c.1486A>C NP_001243182.1:p.Lys496Gln
NM_001974.4:c.1486A>C NP_001965.3:p.Lys496Gln
NM_001256252.1:c.1330A>C NP_001243181.1:p.Lys444Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.848
ToMMo:0.829
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.786

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600493 OMIM
HGNC 3336 HGNC
Ensembl ENSG00000174837 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61014285 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 cystic fibrosis Repetitive MAS were strongly associated with EMR1-rs373533 in Kumasi (p = 0.0000... BeFree 23614351 Detail
<0.001 Malaria, Cerebral MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Ku... BeFree 23614351 Detail
0.001 Malaria, Cerebral MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Ku... BeFree 23614351 Detail
0.012 anemia Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... BeFree 24934404 Detail
<0.001 anemia Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... BeFree 24934404 Detail
<0.001 anemia Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54... BeFree 24934404 Detail
Annotation

Annotations

DescrptionSourceLinks
Repetitive MAS were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00003) and cystic fibros... DisGeNET Detail
MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00019) a... DisGeNET Detail
MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00019) a... DisGeNET Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... DisGeNET Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... DisGeNET Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge... 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
chr19:6,919,624-6,919,624
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1090
Mean of sample read depth (HGVD)
28.67
Standard deviation of sample read depth (HGVD)
22.13
Number of reference allele (HGVD)
332
Number of alternative allele (HGVD)
1847
Allele Frequency (HGVD)
0.8476365305185866
Gene Symbol (HGVD)
EMR1
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))
rs373533
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8289
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13892
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
6795
East Asian Heterozygous Counts (ExAC)
1427
East Asian Homozygous Counts (ExAC)
2684
East Asian Allele Frequency (ExAC)
0.785912560721721
Chromosome Counts in All Race (ExAC)
121392
Allele Counts in All Race (ExAC)
93255
Heterozygous Counts in All Race (ExAC)
21175
Homozygous Counts in All Race (ExAC)
36040
Allele Frequency in All Race (ExAC)
0.768213720838276
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