chr19:1043749:A>G Detail (hg38) (ABCA7)

Information

Genome

Assembly Position
hg19 chr19:1,043,748-1,043,748 View the variant detail on this assembly version.
hg38 chr19:1,043,749-1,043,749

HGVS

Type Transcript Protein
RefSeq NM_019112.3:c.955A>G NP_061985.2:p.Thr319Ala
Ensemble ENST00000263094.11:c.955A>G ENST00000263094.11:p.Thr319Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.068
ToMMo:0.057
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.085

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605414 OMIM
HGNC 37 HGNC
Ensembl ENSG00000064687 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv60733352 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
0.440 Alzheimer's disease There were four significant associations between genotypes and phenotypes of AD ... BeFree 24530172 Detail
0.249 Alzheimer's disease There were four significant associations between genotypes and phenotypes of AD ... BeFree 24530172 Detail
Annotation

Annotations

DescrptionSourceLinks
There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs... DisGeNET Detail
There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs... 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
hg38
Position
chr19:1,043,749-1,043,749
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
70.70
Standard deviation of sample read depth (HGVD)
35.74
Number of reference allele (HGVD)
2244
Number of alternative allele (HGVD)
165
Allele Frequency (HGVD)
0.0684931506849315
Gene Symbol (HGVD)
ABCA7
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))
rs3752232
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0569
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
953
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
8562
East Asian Allele Counts (ExAC)
731
East Asian Heterozygous Counts (ExAC)
683
East Asian Homozygous Counts (ExAC)
24
East Asian Allele Frequency (ExAC)
0.08537724830647045
Chromosome Counts in All Race (ExAC)
119898
Allele Counts in All Race (ExAC)
7241
Heterozygous Counts in All Race (ExAC)
6367
Homozygous Counts in All Race (ExAC)
437
Allele Frequency in All Race (ExAC)
0.06039300071727635
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