chr16:88713236:A>G Detail (hg19) (CYBA)

Information

Genome

Assembly Position
hg19 chr16:88,713,236-88,713,236
hg38 chr16:88,646,828-88,646,828 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000101.3:c.214T>C NP_000092.2:p.Tyr72His
Ensemble ENST00000696162.1:c.214T>C ENST00000696162.1:p.Tyr72His
ENST00000696157.1:c.214T>C ENST00000696157.1:p.Tyr72His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.916
ToMMo:0.908
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.912

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 tgv56585300 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2009-07-01 no assertion criteria provided CYBA POLYMORPHISM germline Detail
Benign 2024-01-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely pathogenic 2018-11-06 no assertion criteria provided Very early onset inflammatory bowel disease inherited Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative germline unknown Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline unknown Detail
Benign 2019-11-18 no assertion criteria provided chronic granulomatous disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
<0.001 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
<0.001 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
0.011 coronary artery disease Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
<0.001 hyperuricemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.004 coronary artery disease Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
<0.001 Hypercholesterolemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.031 coronary artery disease Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
<0.001 hyperuricemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.150 coronary artery disease Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.003 hyperuricemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.006 Hypercholesterolemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.006 Hypercholesterolemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.003 Hypercholesterolemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
<0.001 hyperuricemia Multivariate logistic regression analysis with adjustment for age, body mass ind... BeFree 14709372 Detail
0.201 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
0.008 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
<0.001 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
<0.001 Cardiac fibrosis In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protecte... BeFree 23576480 Detail
<0.001 Myocardial necrosis In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protecte... BeFree 23576480 Detail
0.001 myocardial infarction In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protecte... BeFree 23576480 Detail
0.223 Hypertensive disease After adjustment for age, body mass index, fibrinogen level and high sensitivity... BeFree 23701472 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent After adjustment for age, body mass index, fibrinogen level and high sensitivity... BeFree 23701472 Detail
<0.001 diffuse large B-cell lymphoma Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alky... BeFree 19448608 Detail
<0.001 diffuse large B-cell lymphoma Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alky... BeFree 19448608 Detail
0.248 Hypertensive disease [Exercise training, NADPH oxidase p22phox gene polymorphisms, and hypertension.] GAD 19516159 Detail
0.003 Sleep Apnea, Obstructive The frequencies of NADPH oxidase (NOX) polymorphisms in the p22phox subunit were... BeFree 21902598 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND CYBA POLYMORPHISM ClinVar Detail
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND not specified ClinVar Detail
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND Very early onset inflammatory bowel disease ClinVar Detail
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND Granulomatous disease, chronic, autosomal recessive, cyt... ClinVar Detail
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND not provided ClinVar Detail
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND Chronic granulomatous disease ClinVar Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protected against focal myoc... DisGeNET Detail
In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protected against focal myoc... DisGeNET Detail
In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protected against focal myoc... DisGeNET Detail
After adjustment for age, body mass index, fibrinogen level and high sensitivity C-reactive protein ... DisGeNET Detail
After adjustment for age, body mass index, fibrinogen level and high sensitivity C-reactive protein ... DisGeNET Detail
Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alkylator detoxification... DisGeNET Detail
Overall, host SNPs affecting doxorubicin pharmacodynamics (CYBA rs4673) and alkylator detoxification... DisGeNET Detail
[Exercise training, NADPH oxidase p22phox gene polymorphisms, and hypertension.] DisGeNET Detail
The frequencies of NADPH oxidase (NOX) polymorphisms in the p22phox subunit were similar between chi... 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
-
dbSNP
rs4673 dbSNP
Genome
hg19
Position
chr16:88,713,236-88,713,236
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1184
Mean of sample read depth (HGVD)
20.51
Standard deviation of sample read depth (HGVD)
13.85
Number of reference allele (HGVD)
199
Number of alternative allele (HGVD)
2168
Allele Frequency (HGVD)
0.9159273341782848
Gene Symbol (HGVD)
CYBA
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))
rs4673
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9081
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15213
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16752
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
7877
East Asian Heterozygous Counts (ExAC)
705
East Asian Homozygous Counts (ExAC)
3586
East Asian Allele Frequency (ExAC)
0.9123233727125318
Chromosome Counts in All Race (ExAC)
120788
Allele Counts in All Race (ExAC)
83444
Heterozygous Counts in All Race (ExAC)
24540
Homozygous Counts in All Race (ExAC)
29452
Allele Frequency in All Race (ExAC)
0.6908302149220121
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