chrX:37644425:C>G Detail (hg19) (CYBB)

Information

Genome

Assembly Position
hg19 chrX:37,644,425-37,644,425
hg38 chrX:37,785,172-37,785,172 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000397.3:c.252+1572C>G
Ensemble ENST00000378588.5:c.252+1572C>G
ENST00000696171.1:c.156+1572C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.028
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 300481 OMIM
HGNC 2578 HGNC
Ensembl ENSG00000165168 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv81506244 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
0.003 Sleep Apnea, Obstructive The frequencies of NADPH oxidase (NOX) polymorphisms in the p22phox subunit were... BeFree 21902598 Detail
Annotation

Annotations

DescrptionSourceLinks
The frequencies of NADPH oxidase (NOX) polymorphisms in the p22phox subunit were similar between chi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6520785 dbSNP
Genome
hg19
Position
chrX:37,644,425-37,644,425
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs6520785
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.028
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
359
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12843
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