chr16:88717074:G>A Detail (hg19) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,717,074-88,717,074
hg38 chr16:88,650,666-88,650,666 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.58+290C>T
Ensemble ENST00000696163.1:c.58+290C>T
ENST00000696160.1:c.58+290C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.186
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.139

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 608508 OMIM
HGNC 2577 HGNC
Ensembl ENSG00000051523 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56585604 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-08-08 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.011 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.008 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.004 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 Peripheral Arterial Diseases However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.019 Coronary Arteriosclerosis However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.031 coronary artery disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.027 Coronary heart disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.167 Coronary heart disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.148 coronary artery disease However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
0.028 Coronary Arteriosclerosis However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
<0.001 Peripheral Arterial Diseases However, 2 previously reported candidate genes for PAD and 1 SNP associated with... BeFree 22199011 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.58+290C>T AND not provided ClinVar Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3794624 dbSNP
Genome
hg19
Position
chr16:88,717,074-88,717,074
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs3794624
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1858
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3114
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
72
East Asian Allele Counts (ExAC)
10
East Asian Heterozygous Counts (ExAC)
10
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.1388888888888889
Chromosome Counts in All Race (ExAC)
2728
Allele Counts in All Race (ExAC)
690
Heterozygous Counts in All Race (ExAC)
582
Homozygous Counts in All Race (ExAC)
54
Allele Frequency in All Race (ExAC)
0.2529325513196481
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