chr20:23084572:G>A Detail (hg38) (CD93)

Information

Genome

Assembly Position
hg19 chr20:23,065,209-23,065,209 View the variant detail on this assembly version.
hg38 chr20:23,084,572-23,084,572

HGVS

Type Transcript Protein
RefSeq NM_012072.3:c.1621C>T NP_036204.2:p.Pro541Ser
Ensemble ENST00000246006.5:c.1621C>T ENST00000246006.5:p.Pro541Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.684
ToMMo:0.684
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.647

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120577 OMIM
HGNC 15855 HGNC
Ensembl ENSG00000125810 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63383078 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.016 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.016 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.007 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.005 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.005 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012072.4(CD93):c.1621C>T (p.Pro541Ser) AND not specified ClinVar Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... 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
chr20:23,084,572-23,084,572
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1180
Mean of sample read depth (HGVD)
62.19
Standard deviation of sample read depth (HGVD)
33.05
Number of reference allele (HGVD)
745
Number of alternative allele (HGVD)
1615
Allele Frequency (HGVD)
0.684322033898305
Gene Symbol (HGVD)
CD93
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))
rs3746731
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6841
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11464
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
5574
East Asian Heterozygous Counts (ExAC)
2026
East Asian Homozygous Counts (ExAC)
1774
East Asian Allele Frequency (ExAC)
0.6466357308584687
Chromosome Counts in All Race (ExAC)
120762
Allele Counts in All Race (ExAC)
68053
Heterozygous Counts in All Race (ExAC)
28631
Homozygous Counts in All Race (ExAC)
19711
Allele Frequency in All Race (ExAC)
0.5635299183517994
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