dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs4673
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr16:88646828 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.342109 (120040/350882, ALFA)A=0.356980 (94489/264690, TOPMED)A=0.302295 (75763/250626, GnomAD_exome) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYBA : Missense Variant
- Publications
- 70 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 366956 | A=0.342987 | G=0.657013, T=0.000000 | 0.121873 | 0.4359 | 0.442227 | 34 |
| European | Sub | 313224 | A=0.347231 | G=0.652769, T=0.000000 | 0.122245 | 0.427783 | 0.449972 | 5 |
| African | Sub | 13428 | A=0.45569 | G=0.54431, T=0.00000 | 0.207775 | 0.296396 | 0.49583 | 0 |
| African Others | Sub | 486 | A=0.496 | G=0.504, T=0.000 | 0.251029 | 0.259259 | 0.489712 | 0 |
| African American | Sub | 12942 | A=0.45418 | G=0.54582, T=0.00000 | 0.206151 | 0.29779 | 0.496059 | 0 |
| Asian | Sub | 6954 | A=0.0869 | G=0.9131, T=0.0000 | 0.009203 | 0.83549 | 0.155306 | 1 |
| East Asian | Sub | 4988 | A=0.0874 | G=0.9126, T=0.0000 | 0.006816 | 0.831997 | 0.161187 | 0 |
| Other Asian | Sub | 1966 | A=0.0855 | G=0.9145, T=0.0000 | 0.015259 | 0.844354 | 0.140387 | 6 |
| Latin American 1 | Sub | 1134 | A=0.3686 | G=0.6314, T=0.0000 | 0.137566 | 0.400353 | 0.462081 | 0 |
| Latin American 2 | Sub | 7212 | A=0.2542 | G=0.7458, T=0.0000 | 0.067388 | 0.559068 | 0.373544 | 0 |
| South Asian | Sub | 5224 | A=0.3700 | G=0.6300, T=0.0000 | 0.150459 | 0.410413 | 0.439127 | 5 |
| Other | Sub | 19780 | A=0.31309 | G=0.68691, T=0.00000 | 0.108696 | 0.482508 | 0.408797 | 14 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 350882 | A=0.342109 | G=0.657891, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 303360 | A=0.347989 | G=0.652011, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 18362 | A=0.31266 | G=0.68734, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 8636 | A=0.4568 | G=0.5432, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7212 | A=0.2542 | G=0.7458, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6954 | A=0.0869 | G=0.9131, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 5224 | A=0.3700 | G=0.6300, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1134 | A=0.3686 | G=0.6314, T=0.0000 |
| TopMed | Global | Study-wide | 264690 | A=0.356980 | G=0.643020 |
| gnomAD - Exomes | Global | Study-wide | 250626 | A=0.302295 | G=0.697705 |
| gnomAD - Exomes | European | Sub | 134694 | A=0.307311 | G=0.692689 |
| gnomAD - Exomes | Asian | Sub | 48988 | A=0.26106 | G=0.73894 |
| gnomAD - Exomes | American | Sub | 34568 | A=0.22894 | G=0.77106 |
| gnomAD - Exomes | African | Sub | 16210 | A=0.44904 | G=0.55096 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10048 | A=0.43232 | G=0.56768 |
| gnomAD - Exomes | Other | Sub | 6118 | A=0.3341 | G=0.6659 |
| gnomAD - Genomes | Global | Study-wide | 139950 | A=0.350268 | G=0.649732 |
| gnomAD - Genomes | European | Sub | 75822 | A=0.31439 | G=0.68561 |
| gnomAD - Genomes | African | Sub | 41896 | A=0.45412 | G=0.54588 |
| gnomAD - Genomes | American | Sub | 13636 | A=0.27567 | G=0.72433 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | A=0.4190 | G=0.5810 |
| gnomAD - Genomes | East Asian | Sub | 3122 | A=0.0865 | G=0.9135 |
| gnomAD - Genomes | Other | Sub | 2154 | A=0.3417 | G=0.6583 |
| ExAC | Global | Study-wide | 120788 | A=0.309170 | G=0.690830 |
| ExAC | Europe | Sub | 72846 | A=0.31582 | G=0.68418 |
| ExAC | Asian | Sub | 25138 | A=0.27047 | G=0.72953 |
| ExAC | American | Sub | 11552 | A=0.22464 | G=0.77536 |
| ExAC | African | Sub | 10354 | A=0.45132 | G=0.54868 |
| ExAC | Other | Sub | 898 | A=0.302 | G=0.698 |
| The PAGE Study | Global | Study-wide | 78680 | A=0.34446 | G=0.65554 |
| The PAGE Study | AfricanAmerican | Sub | 32500 | A=0.45228 | G=0.54772 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.24995 | G=0.75005 |
| The PAGE Study | Asian | Sub | 8316 | A=0.1023 | G=0.8977 |
| The PAGE Study | PuertoRican | Sub | 7916 | A=0.3469 | G=0.6531 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.2532 | G=0.7468 |
| The PAGE Study | Cuban | Sub | 4228 | A=0.3614 | G=0.6386 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.3929 | G=0.6071 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.2522 | G=0.7478 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.3128 | G=0.6872 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.3190 | G=0.6810 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.332 | G=0.668 |
| 14KJPN | JAPANESE | Study-wide | 28250 | A=0.09395 | G=0.90605 |
| 8.3KJPN | JAPANESE | Study-wide | 16752 | A=0.09187 | G=0.90813 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.3412 | G=0.6588 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.5062 | G=0.4938 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.3428 | G=0.6572 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.3735 | G=0.6265 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.0803 | G=0.9197 |
| 1000Genomes_30x | American | Sub | 980 | A=0.310 | G=0.690 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.3357 | G=0.6643 |
| 1000Genomes | African | Sub | 1322 | A=0.5083 | G=0.4917 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.0843 | G=0.9157 |
| 1000Genomes | Europe | Sub | 1006 | A=0.3419 | G=0.6581 |
| 1000Genomes | South Asian | Sub | 978 | A=0.375 | G=0.625 |
| 1000Genomes | American | Sub | 694 | A=0.307 | G=0.693 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.2929 | G=0.7071 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.3324 | G=0.6676 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.3546 | G=0.6454 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.0922 | G=0.9078, T=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.2927 | G=0.7073 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.100 | G=0.900 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.319 | G=0.681 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.440 | G=0.560 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.359 | G=0.641 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.550 | G=0.450 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.093 | G=0.907 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.12 | G=0.88 |
| HapMap | Global | Study-wide | 1892 | A=0.3631 | G=0.6369 |
| HapMap | American | Sub | 770 | A=0.294 | G=0.706 |
| HapMap | African | Sub | 692 | A=0.520 | G=0.480 |
| HapMap | Asian | Sub | 254 | A=0.075 | G=0.925 |
| HapMap | Europe | Sub | 176 | A=0.466 | G=0.534 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.0922 | G=0.9078 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.329 | G=0.671 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 610 | A=0.056 | G=0.944 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.247 | G=0.753 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.363 | G=0.637 |
| SGDP_PRJ | Global | Study-wide | 500 | A=0.196 | G=0.804 |
| FINRISK | Finnish from FINRISK project | Study-wide | 302 | A=0.166 | G=0.834 |
| Qatari | Global | Study-wide | 216 | A=0.407 | G=0.593 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 88 | A=0.43 | G=0.57 |
| Siberian | Global | Study-wide | 52 | A=0.27 | G=0.73 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.23 | G=0.78 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 16 | NC_000016.10:g.88646828A>G |
| GRCh38.p14 chr 16 | NC_000016.10:g.88646828A>T |
| GRCh37.p13 chr 16 | NC_000016.9:g.88713236A>G |
| GRCh37.p13 chr 16 | NC_000016.9:g.88713236A>T |
| CYBA RefSeqGene (LRG_52) | NG_007291.1:g.9222T>C |
| CYBA RefSeqGene (LRG_52) | NG_007291.1:g.9222T>A |
Gene: CYBA, cytochrome b-245 alpha chain
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYBA transcript | NM_000101.4:c.214T>C | Y [TAC] > H [CAC] | Coding Sequence Variant |
| cytochrome b-245 light chain | NP_000092.2:p.Tyr72His | Y (Tyr) > H (His) | Missense Variant |
| CYBA transcript | NM_000101.4:c.214T>A | Y [TAC] > N [AAC] | Coding Sequence Variant |
| cytochrome b-245 light chain | NP_000092.2:p.Tyr72Asn | Y (Tyr) > N (Asn) | Missense Variant |
| CYBA transcript variant X1 | XM_011522905.4:c.214T>C | Y [TAC] > H [CAC] | Coding Sequence Variant |
| cytochrome b-245 light chain isoform X1 | XP_011521207.1:p.Tyr72His | Y (Tyr) > H (His) | Missense Variant |
| CYBA transcript variant X1 | XM_011522905.4:c.214T>A | Y [TAC] > N [AAC] | Coding Sequence Variant |
| cytochrome b-245 light chain isoform X1 | XP_011521207.1:p.Tyr72Asn | Y (Tyr) > N (Asn) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: G (allele ID:
17302
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000002351.4 | CYBA POLYMORPHISM | Benign |
| RCV000249071.5 | not specified | Benign |
| RCV000736011.1 | Very early onset inflammatory bowel disease | Likely-Pathogenic |
| RCV000989646.5 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | Benign |
| RCV001723534.2 | not provided | Benign |
| RCV001826406.1 | Chronic granulomatous disease | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | G | T |
|---|---|---|---|
| GRCh38.p14 chr 16 | NC_000016.10:g.88646828= | NC_000016.10:g.88646828A>G | NC_000016.10:g.88646828A>T |
| GRCh37.p13 chr 16 | NC_000016.9:g.88713236= | NC_000016.9:g.88713236A>G | NC_000016.9:g.88713236A>T |
| CYBA RefSeqGene (LRG_52) | NG_007291.1:g.9222= | NG_007291.1:g.9222T>C | NG_007291.1:g.9222T>A |
| CYBA transcript | NM_000101.4:c.214= | NM_000101.4:c.214T>C | NM_000101.4:c.214T>A |
| CYBA transcript | NM_000101.3:c.214= | NM_000101.3:c.214T>C | NM_000101.3:c.214T>A |
| CYBA transcript variant X1 | XM_011522905.4:c.214= | XM_011522905.4:c.214T>C | XM_011522905.4:c.214T>A |
| CYBA transcript variant X1 | XM_011522905.3:c.214= | XM_011522905.3:c.214T>C | XM_011522905.3:c.214T>A |
| CYBA transcript variant X1 | XM_011522905.2:c.214= | XM_011522905.2:c.214T>C | XM_011522905.2:c.214T>A |
| CYBA transcript variant X1 | XM_011522905.1:c.214= | XM_011522905.1:c.214T>C | XM_011522905.1:c.214T>A |
| cytochrome b-245 light chain | NP_000092.2:p.Tyr72= | NP_000092.2:p.Tyr72His | NP_000092.2:p.Tyr72Asn |
| cytochrome b-245 light chain isoform X1 | XP_011521207.1:p.Tyr72= | XP_011521207.1:p.Tyr72His | XP_011521207.1:p.Tyr72Asn |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
209 SubSNP,
29 Frequency,
6 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1522617 | Oct 13, 2000 (102) |
| 2 | WIAF-CSNP | ss3173156 | Aug 15, 2001 (102) |
| 3 | YUSUKE | ss3198503 | Aug 15, 2001 (103) |
| 4 | LEE | ss4413910 | May 29, 2002 (108) |
| 5 | WI_SSAHASNP | ss6598678 | Feb 20, 2003 (113) |
| 6 | SNP500CANCER | ss6903734 | Mar 31, 2003 (113) |
| 7 | BCM_SSAHASNP | ss14255553 | Dec 05, 2003 (119) |
| 8 | CGAP-GAI | ss16227053 | Feb 27, 2004 (126) |
| 9 | CGAP-GAI | ss16245512 | Feb 27, 2004 (126) |
| 10 | CSHL-HAPMAP | ss20014987 | Feb 27, 2004 (120) |
| 11 | SSAHASNP | ss21308875 | Apr 05, 2004 (121) |
| 12 | IMCJ-GDT | ss22886987 | Apr 05, 2004 (121) |
| 13 | PERLEGEN | ss23779281 | Sep 20, 2004 (123) |
| 14 | ABI | ss43932524 | Mar 10, 2006 (126) |
| 15 | APPLERA_GI | ss48410351 | Mar 10, 2006 (126) |
| 16 | ILLUMINA | ss65728344 | Oct 14, 2006 (127) |
| 17 | ILLUMINA | ss66684041 | Nov 29, 2006 (127) |
| 18 | ILLUMINA | ss67356879 | Nov 29, 2006 (127) |
| 19 | ILLUMINA | ss67745552 | Nov 29, 2006 (127) |
| 20 | PERLEGEN | ss69355202 | May 16, 2007 (127) |
| 21 | ILLUMINA | ss70814963 | May 25, 2008 (130) |
| 22 | ILLUMINA | ss71395730 | May 16, 2007 (127) |
| 23 | ILLUMINA | ss75585649 | Dec 07, 2007 (129) |
| 24 | HGSV | ss78658647 | Dec 07, 2007 (129) |
| 25 | ILLUMINA | ss79188967 | Dec 15, 2007 (130) |
| 26 | KRIBB_YJKIM | ss83346600 | Dec 15, 2007 (130) |
| 27 | HGSV | ss85800908 | Dec 15, 2007 (130) |
| 28 | BCMHGSC_JDW | ss90496507 | Mar 24, 2008 (129) |
| 29 | HUMANGENOME_JCVI | ss96707974 | Feb 05, 2009 (130) |
| 30 | BGI | ss106491649 | Feb 05, 2009 (130) |
| 31 | 1000GENOMES | ss109569667 | Jan 24, 2009 (130) |
| 32 | 1000GENOMES | ss113156722 | Jan 25, 2009 (130) |
| 33 | ILLUMINA-UK | ss118365283 | Feb 14, 2009 (130) |
| 34 | ILLUMINA | ss122350717 | Dec 01, 2009 (131) |
| 35 | ENSEMBL | ss136636235 | Dec 01, 2009 (131) |
| 36 | ENSEMBL | ss136881870 | Dec 01, 2009 (131) |
| 37 | ILLUMINA | ss154306504 | Dec 01, 2009 (131) |
| 38 | GMI | ss157721907 | Dec 01, 2009 (131) |
| 39 | ILLUMINA | ss159483301 | Dec 01, 2009 (131) |
| 40 | SEATTLESEQ | ss159733780 | Dec 01, 2009 (131) |
| 41 | ILLUMINA | ss160696733 | Dec 01, 2009 (131) |
| 42 | COMPLETE_GENOMICS | ss168662669 | Jul 04, 2010 (132) |
| 43 | COMPLETE_GENOMICS | ss170632915 | Jul 04, 2010 (132) |
| 44 | COMPLETE_GENOMICS | ss171724169 | Jul 04, 2010 (132) |
| 45 | ILLUMINA | ss171855440 | Jul 04, 2010 (132) |
| 46 | ILLUMINA | ss173775352 | Jul 04, 2010 (132) |
| 47 | BUSHMAN | ss202085667 | Jul 04, 2010 (132) |
| 48 | BCM-HGSC-SUB | ss207689724 | Jul 04, 2010 (132) |
| 49 | 1000GENOMES | ss227413149 | Jul 14, 2010 (132) |
| 50 | 1000GENOMES | ss237146684 | Jul 15, 2010 (132) |
| 51 | 1000GENOMES | ss243463515 | Jul 15, 2010 (132) |
| 52 | OMICIA | ss244239390 | Aug 29, 2012 (137) |
| 53 | ILLUMINA | ss244300718 | Jul 04, 2010 (132) |
| 54 | OMIM-CURATED-RECORDS | ss253284363 | Aug 18, 2010 (132) |
| 55 | BL | ss255881340 | May 09, 2011 (134) |
| 56 | GMI | ss282652630 | May 04, 2012 (137) |
| 57 | PJP | ss291903325 | May 09, 2011 (134) |
| 58 | NHLBI-ESP | ss342436821 | May 09, 2011 (134) |
| 59 | ILLUMINA | ss410934822 | Sep 17, 2011 (135) |
| 60 | ILLUMINA | ss480998602 | May 04, 2012 (137) |
| 61 | ILLUMINA | ss481019302 | May 04, 2012 (137) |
| 62 | ILLUMINA | ss482001230 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss485294230 | May 04, 2012 (137) |
| 64 | 1000GENOMES | ss491110006 | May 04, 2012 (137) |
| 65 | EXOME_CHIP | ss491513096 | May 04, 2012 (137) |
| 66 | CLINSEQ_SNP | ss491724796 | May 04, 2012 (137) |
| 67 | ILLUMINA | ss537256465 | Sep 08, 2015 (146) |
| 68 | TISHKOFF | ss565104590 | Apr 25, 2013 (138) |
| 69 | SSMP | ss660882773 | Apr 25, 2013 (138) |
| 70 | ILLUMINA | ss778913991 | Sep 08, 2015 (146) |
| 71 | ILLUMINA | ss780722057 | Aug 21, 2014 (142) |
| 72 | ILLUMINA | ss783092992 | Sep 08, 2015 (146) |
| 73 | ILLUMINA | ss783397803 | Aug 21, 2014 (142) |
| 74 | ILLUMINA | ss784050369 | Sep 08, 2015 (146) |
| 75 | ILLUMINA | ss825519485 | Apr 01, 2015 (144) |
| 76 | ILLUMINA | ss832351486 | Sep 08, 2015 (146) |
| 77 | ILLUMINA | ss832994722 | Jul 13, 2019 (153) |
| 78 | ILLUMINA | ss834375371 | Sep 08, 2015 (146) |
| 79 | JMKIDD_LAB | ss974496329 | Aug 21, 2014 (142) |
| 80 | EVA-GONL | ss992817305 | Aug 21, 2014 (142) |
| 81 | JMKIDD_LAB | ss1067564918 | Aug 21, 2014 (142) |
| 82 | JMKIDD_LAB | ss1080861399 | Aug 21, 2014 (142) |
| 83 | 1000GENOMES | ss1357505138 | Aug 21, 2014 (142) |
| 84 | DDI | ss1427945169 | Apr 01, 2015 (144) |
| 85 | EVA_GENOME_DK | ss1578046772 | Apr 01, 2015 (144) |
| 86 | EVA_FINRISK | ss1584102106 | Apr 01, 2015 (144) |
| 87 | EVA_UK10K_ALSPAC | ss1635092864 | Apr 01, 2015 (144) |
| 88 | EVA_UK10K_TWINSUK | ss1678086897 | Apr 01, 2015 (144) |
| 89 | EVA_EXAC | ss1692462016 | Apr 01, 2015 (144) |
| 90 | EVA_DECODE | ss1696859007 | Apr 01, 2015 (144) |
| 91 | EVA_MGP | ss1711439958 | Apr 01, 2015 (144) |
| 92 | EVA_SVP | ss1713563154 | Apr 01, 2015 (144) |
| 93 | ILLUMINA | ss1752212126 | Sep 08, 2015 (146) |
| 94 | ILLUMINA | ss1752212127 | Sep 08, 2015 (146) |
| 95 | HAMMER_LAB | ss1808657280 | Sep 08, 2015 (146) |
| 96 | YSAMUELS | ss1849912472 | Feb 12, 2016 (147) |
| 97 | ILLUMINA | ss1917911408 | Feb 12, 2016 (147) |
| 98 | WEILL_CORNELL_DGM | ss1936257083 | Feb 12, 2016 (147) |
| 99 | ILLUMINA | ss1946423479 | Feb 12, 2016 (147) |
| 100 | ILLUMINA | ss1946423480 | Feb 12, 2016 (147) |
| 101 | ILLUMINA | ss1959709458 | Feb 12, 2016 (147) |
| 102 | ILLUMINA | ss1959709459 | Feb 12, 2016 (147) |
| 103 | GENOMED | ss1968331829 | Jul 19, 2016 (147) |
| 104 | JJLAB | ss2028919702 | Sep 14, 2016 (149) |
| 105 | USC_VALOUEV | ss2157359249 | Dec 20, 2016 (150) |
| 106 | HUMAN_LONGEVITY | ss2214710350 | Dec 20, 2016 (150) |
| 107 | SYSTEMSBIOZJU | ss2628949785 | Nov 08, 2017 (151) |
| 108 | ILLUMINA | ss2633361575 | Nov 08, 2017 (151) |
| 109 | ILLUMINA | ss2633361576 | Nov 08, 2017 (151) |
| 110 | ILLUMINA | ss2635067217 | Nov 08, 2017 (151) |
| 111 | GRF | ss2701896078 | Nov 08, 2017 (151) |
| 112 | ILLUMINA | ss2710841305 | Nov 08, 2017 (151) |
| 113 | GNOMAD | ss2742229579 | Nov 08, 2017 (151) |
| 114 | GNOMAD | ss2749620342 | Nov 08, 2017 (151) |
| 115 | GNOMAD | ss2946542090 | Nov 08, 2017 (151) |
| 116 | AFFY | ss2985079498 | Nov 08, 2017 (151) |
| 117 | AFFY | ss2985718187 | Nov 08, 2017 (151) |
| 118 | SWEGEN | ss3015018875 | Nov 08, 2017 (151) |
| 119 | ILLUMINA | ss3021739655 | Nov 08, 2017 (151) |
| 120 | ILLUMINA | ss3021739656 | Nov 08, 2017 (151) |
| 121 | BIOINF_KMB_FNS_UNIBA | ss3028277666 | Nov 08, 2017 (151) |
| 122 | CSHL | ss3351600158 | Nov 08, 2017 (151) |
| 123 | ILLUMINA | ss3625701695 | Oct 12, 2018 (152) |
| 124 | ILLUMINA | ss3627599677 | Oct 12, 2018 (152) |
| 125 | ILLUMINA | ss3627599678 | Oct 12, 2018 (152) |
| 126 | ILLUMINA | ss3631345244 | Oct 12, 2018 (152) |
| 127 | ILLUMINA | ss3633131884 | Oct 12, 2018 (152) |
| 128 | ILLUMINA | ss3633838624 | Oct 12, 2018 (152) |
| 129 | ILLUMINA | ss3634657735 | Oct 12, 2018 (152) |
| 130 | ILLUMINA | ss3634657736 | Oct 12, 2018 (152) |
| 131 | ILLUMINA | ss3635526656 | Oct 12, 2018 (152) |
| 132 | ILLUMINA | ss3636349503 | Oct 12, 2018 (152) |
| 133 | ILLUMINA | ss3637278151 | Oct 12, 2018 (152) |
| 134 | ILLUMINA | ss3638143279 | Oct 12, 2018 (152) |
| 135 | ILLUMINA | ss3639082942 | Oct 12, 2018 (152) |
| 136 | ILLUMINA | ss3639547850 | Oct 12, 2018 (152) |
| 137 | ILLUMINA | ss3640365055 | Oct 12, 2018 (152) |
| 138 | ILLUMINA | ss3640365056 | Oct 12, 2018 (152) |
| 139 | ILLUMINA | ss3643122994 | Oct 12, 2018 (152) |
| 140 | ILLUMINA | ss3644676572 | Oct 12, 2018 (152) |
| 141 | ILLUMINA | ss3644676573 | Oct 12, 2018 (152) |
| 142 | OMUKHERJEE_ADBS | ss3646499483 | Oct 12, 2018 (152) |
| 143 | URBANLAB | ss3650576911 | Oct 12, 2018 (152) |
| 144 | ILLUMINA | ss3652151970 | Oct 12, 2018 (152) |
| 145 | ILLUMINA | ss3652151971 | Oct 12, 2018 (152) |
| 146 | ILLUMINA | ss3653851559 | Oct 12, 2018 (152) |
| 147 | EGCUT_WGS | ss3681997695 | Jul 13, 2019 (153) |
| 148 | EVA_DECODE | ss3699877385 | Jul 13, 2019 (153) |
| 149 | ILLUMINA | ss3725589778 | Jul 13, 2019 (153) |
| 150 | ACPOP | ss3741780088 | Jul 13, 2019 (153) |
| 151 | ILLUMINA | ss3744145718 | Jul 13, 2019 (153) |
| 152 | ILLUMINA | ss3744436344 | Jul 13, 2019 (153) |
| 153 | ILLUMINA | ss3744958106 | Jul 13, 2019 (153) |
| 154 | ILLUMINA | ss3744958107 | Jul 13, 2019 (153) |
| 155 | EVA | ss3754325510 | Jul 13, 2019 (153) |
| 156 | PAGE_CC | ss3771902154 | Jul 13, 2019 (153) |
| 157 | ILLUMINA | ss3772456238 | Jul 13, 2019 (153) |
| 158 | ILLUMINA | ss3772456239 | Jul 13, 2019 (153) |
| 159 | PACBIO | ss3788120947 | Jul 13, 2019 (153) |
| 160 | PACBIO | ss3793091861 | Jul 13, 2019 (153) |
| 161 | PACBIO | ss3797977242 | Jul 13, 2019 (153) |
| 162 | KHV_HUMAN_GENOMES | ss3819597191 | Jul 13, 2019 (153) |
| 163 | EVA | ss3825048765 | Apr 27, 2020 (154) |
| 164 | EVA | ss3825886184 | Apr 27, 2020 (154) |
| 165 | EVA | ss3834725918 | Apr 27, 2020 (154) |
| 166 | EVA | ss3840970522 | Apr 27, 2020 (154) |
| 167 | EVA | ss3846464205 | Apr 27, 2020 (154) |
| 168 | HGDP | ss3847555842 | Apr 27, 2020 (154) |
| 169 | SGDP_PRJ | ss3885102863 | Apr 27, 2020 (154) |
| 170 | KRGDB | ss3934660041 | Apr 27, 2020 (154) |
| 171 | KOGIC | ss3978192084 | Apr 27, 2020 (154) |
| 172 | FSA-LAB | ss3984101357 | Apr 26, 2021 (155) |
| 173 | EVA | ss3984718026 | Apr 26, 2021 (155) |
| 174 | EVA | ss3984718027 | Apr 26, 2021 (155) |
| 175 | EVA | ss3985775846 | Apr 26, 2021 (155) |
| 176 | EVA | ss3986071836 | Apr 26, 2021 (155) |
| 177 | EVA | ss3986701205 | Apr 26, 2021 (155) |
| 178 | TOPMED | ss5026172813 | Apr 26, 2021 (155) |
| 179 | TOMMO_GENOMICS | ss5220996852 | Apr 26, 2021 (155) |
| 180 | EVA | ss5236936731 | Apr 26, 2021 (155) |
| 181 | EVA | ss5237236166 | Apr 26, 2021 (155) |
| 182 | EVA | ss5237667255 | Oct 16, 2022 (156) |
| 183 | 1000G_HIGH_COVERAGE | ss5302056234 | Oct 16, 2022 (156) |
| 184 | TRAN_CS_UWATERLOO | ss5314445718 | Oct 16, 2022 (156) |
| 185 | EVA | ss5315864808 | Oct 16, 2022 (156) |
| 186 | EVA | ss5425731812 | Oct 16, 2022 (156) |
| 187 | HUGCELL_USP | ss5495285566 | Oct 16, 2022 (156) |
| 188 | EVA | ss5511700333 | Oct 16, 2022 (156) |
| 189 | 1000G_HIGH_COVERAGE | ss5605258226 | Oct 16, 2022 (156) |
| 190 | EVA | ss5623968870 | Oct 16, 2022 (156) |
| 191 | EVA | ss5624065894 | Oct 16, 2022 (156) |
| 192 | SANFORD_IMAGENETICS | ss5624389268 | Oct 16, 2022 (156) |
| 193 | SANFORD_IMAGENETICS | ss5659517623 | Oct 16, 2022 (156) |
| 194 | TOMMO_GENOMICS | ss5776423249 | Oct 16, 2022 (156) |
| 195 | EVA | ss5799967458 | Oct 16, 2022 (156) |
| 196 | EVA | ss5800203702 | Oct 16, 2022 (156) |
| 197 | YY_MCH | ss5816240512 | Oct 16, 2022 (156) |
| 198 | EVA | ss5846839897 | Oct 16, 2022 (156) |
| 199 | EVA | ss5847469070 | Oct 16, 2022 (156) |
| 200 | EVA | ss5847782850 | Oct 16, 2022 (156) |
| 201 | EVA | ss5848433735 | Oct 16, 2022 (156) |
| 202 | EVA | ss5851697021 | Oct 16, 2022 (156) |
| 203 | EVA | ss5900348045 | Oct 16, 2022 (156) |
| 204 | EVA | ss5936273609 | Oct 16, 2022 (156) |
| 205 | EVA | ss5936565211 | Oct 16, 2022 (156) |
| 206 | EVA | ss5950933964 | Oct 16, 2022 (156) |
| 207 | EVA | ss5979496068 | Oct 16, 2022 (156) |
| 208 | EVA | ss5980941509 | Oct 16, 2022 (156) |
| 209 | EVA | ss5981297432 | Oct 16, 2022 (156) |
| 210 | 1000Genomes | NC_000016.9 - 88713236 | Oct 12, 2018 (152) |
| 211 | 1000Genomes_30x | NC_000016.10 - 88646828 | Oct 16, 2022 (156) |
| 212 | The Avon Longitudinal Study of Parents and Children | NC_000016.9 - 88713236 | Oct 12, 2018 (152) |
| 213 | Genetic variation in the Estonian population | NC_000016.9 - 88713236 | Oct 12, 2018 (152) |
| 214 | ExAC | NC_000016.9 - 88713236 | Oct 12, 2018 (152) |
| 215 | FINRISK | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 216 | The Danish reference pan genome | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 217 | gnomAD - Genomes | NC_000016.10 - 88646828 | Apr 26, 2021 (155) |
| 218 | gnomAD - Exomes | NC_000016.9 - 88713236 | Jul 13, 2019 (153) |
| 219 | Genome of the Netherlands Release 5 | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 220 | HGDP-CEPH-db Supplement 1 | NC_000016.8 - 87240737 | Apr 27, 2020 (154) |
| 221 | HapMap | NC_000016.10 - 88646828 | Apr 27, 2020 (154) |
| 222 | KOREAN population from KRGDB | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 223 | Korean Genome Project | NC_000016.10 - 88646828 | Apr 27, 2020 (154) |
| 224 | Medical Genome Project healthy controls from Spanish population | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 225 | Northern Sweden | NC_000016.9 - 88713236 | Jul 13, 2019 (153) |
| 226 | The PAGE Study | NC_000016.10 - 88646828 | Jul 13, 2019 (153) |
| 227 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000016.9 - 88713236 | Apr 26, 2021 (155) |
| 228 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 229 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 230 | Qatari | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 231 | SGDP_PRJ | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 232 | Siberian | NC_000016.9 - 88713236 | Apr 27, 2020 (154) |
| 233 | 8.3KJPN | NC_000016.9 - 88713236 | Apr 26, 2021 (155) |
| 234 | 14KJPN | NC_000016.10 - 88646828 | Oct 16, 2022 (156) |
| 235 | TopMed | NC_000016.10 - 88646828 | Apr 26, 2021 (155) |
| 236 | UK 10K study - Twins | NC_000016.9 - 88713236 | Oct 12, 2018 (152) |
| 237 | A Vietnamese Genetic Variation Database | NC_000016.9 - 88713236 | Jul 13, 2019 (153) |
| 238 | ALFA | NC_000016.10 - 88646828 | Apr 26, 2021 (155) |
| 239 | ClinVar | RCV000002351.4 | Jul 13, 2019 (153) |
| 240 | ClinVar | RCV000249071.5 | Oct 16, 2022 (156) |
| 241 | ClinVar | RCV000736011.1 | Jul 13, 2019 (153) |
| 242 | ClinVar | RCV000989646.5 | Oct 16, 2022 (156) |
| 243 | ClinVar | RCV001723534.2 | Oct 16, 2022 (156) |
| 244 | ClinVar | RCV001826406.1 | Oct 16, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs1130413 | Jan 04, 2002 (102) |
| rs2228471 | Jan 04, 2002 (102) |
| rs2242272 | Mar 26, 2002 (103) |
| rs3189211 | Oct 08, 2002 (108) |
| rs4782392 | Apr 07, 2003 (113) |
| rs11266997 | Mar 10, 2006 (126) |
| rs59455247 | May 25, 2008 (130) |
| rs386594564 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 233734, ss78658647, ss85800908, ss90496507, ss109569667, ss113156722, ss118365283, ss160696733, ss168662669, ss170632915, ss171724169, ss202085667, ss207689724, ss244300718, ss255881340, ss282652630, ss291903325, ss480998602, ss491724796, ss825519485, ss1696859007, ss1713563154, ss2635067217, ss3639082942, ss3639547850, ss3643122994, ss3847555842 | NC_000016.8:87240736:A:G | NC_000016.10:88646827:A:G | (self) |
| 70704913, 39227132, 27735943, 2880579, 98567, 4253664, 11518830, 17486697, 41837435, 555718, 15064953, 1001773, 18299005, 37119843, 9875603, 78966159, 39227132, 8691999, ss227413149, ss237146684, ss243463515, ss342436821, ss481019302, ss482001230, ss485294230, ss491110006, ss491513096, ss537256465, ss565104590, ss660882773, ss778913991, ss780722057, ss783092992, ss783397803, ss784050369, ss832351486, ss832994722, ss834375371, ss974496329, ss992817305, ss1067564918, ss1080861399, ss1357505138, ss1427945169, ss1578046772, ss1584102106, ss1635092864, ss1678086897, ss1692462016, ss1711439958, ss1752212126, ss1752212127, ss1808657280, ss1849912472, ss1917911408, ss1936257083, ss1946423479, ss1946423480, ss1959709458, ss1959709459, ss1968331829, ss2028919702, ss2157359249, ss2628949785, ss2633361575, ss2633361576, ss2701896078, ss2710841305, ss2742229579, ss2749620342, ss2946542090, ss2985079498, ss2985718187, ss3015018875, ss3021739655, ss3021739656, ss3351600158, ss3625701695, ss3627599677, ss3627599678, ss3631345244, ss3633131884, ss3633838624, ss3634657735, ss3634657736, ss3635526656, ss3636349503, ss3637278151, ss3638143279, ss3640365055, ss3640365056, ss3644676572, ss3644676573, ss3646499483, ss3652151970, ss3652151971, ss3653851559, ss3681997695, ss3741780088, ss3744145718, ss3744436344, ss3744958106, ss3744958107, ss3754325510, ss3772456238, ss3772456239, ss3788120947, ss3793091861, ss3797977242, ss3825048765, ss3825886184, ss3834725918, ss3840970522, ss3885102863, ss3934660041, ss3984101357, ss3984718026, ss3984718027, ss3985775846, ss3986071836, ss3986701205, ss5220996852, ss5315864808, ss5425731812, ss5511700333, ss5623968870, ss5624065894, ss5624389268, ss5659517623, ss5799967458, ss5800203702, ss5846839897, ss5847469070, ss5847782850, ss5848433735, ss5936273609, ss5936565211, ss5950933964, ss5979496068, ss5980941509, ss5981297432 | NC_000016.9:88713235:A:G | NC_000016.10:88646827:A:G | (self) |
| RCV000002351.4, RCV000249071.5, RCV000736011.1, RCV000989646.5, RCV001723534.2, RCV001826406.1, 92784161, 498597463, 1442286, 34570085, 1123623, 110260353, 241718474, 7828618530, ss244239390, ss253284363, ss2214710350, ss3028277666, ss3650576911, ss3699877385, ss3725589778, ss3771902154, ss3819597191, ss3846464205, ss3978192084, ss5026172813, ss5236936731, ss5237236166, ss5237667255, ss5302056234, ss5314445718, ss5495285566, ss5605258226, ss5776423249, ss5816240512, ss5851697021, ss5900348045 | NC_000016.10:88646827:A:G | NC_000016.10:88646827:A:G | (self) |
| ss14255553, ss20014987, ss21308875 | NT_010542.14:271035:A:G | NC_000016.10:88646827:A:G | (self) |
| ss1522617, ss3173156, ss3198503, ss4413910, ss6598678, ss6903734, ss16227053, ss16245512, ss22886987, ss23779281, ss43932524, ss48410351, ss65728344, ss66684041, ss67356879, ss67745552, ss69355202, ss70814963, ss71395730, ss75585649, ss79188967, ss83346600, ss96707974, ss106491649, ss122350717, ss136636235, ss136881870, ss154306504, ss157721907, ss159483301, ss159733780, ss171855440, ss173775352, ss410934822 | NT_010542.15:273852:A:G | NC_000016.10:88646827:A:G | (self) |
| 41837435, ss3934660041 | NC_000016.9:88713235:A:T | NC_000016.10:88646827:A:T | (self) |
| 7828618530 | NC_000016.10:88646827:A:T | NC_000016.10:88646827:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
70
citations for rs4673
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 3368442 | Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. | Parkos CA et al. | 1988 | Proceedings of the National Academy of Sciences of the United States of America |
| 9445163 | Polymorphism of the NADH/NADPH oxidase p22 phox gene in patients with coronary artery disease. | Inoue N et al. | 1998 | Circulation |
| 10440830 | Relationship of the C242T p22phox gene polymorphism to angiographic coronary artery disease and endothelial function. | Li A et al. | 1999 | American journal of medical genetics |
| 16330681 | NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. | Wojnowski L et al. | 2005 | Circulation |
| 16595073 | Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. | Savas S et al. | 2006 | Human genomics |
| 16608528 | Genetic polymorphisms and susceptibility to lung disease. | Lee PL et al. | 2006 | Journal of negative results in biomedicine |
| 17825092 | Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. | Nemoto M et al. | 2007 | Cardiovascular diabetology |
| 18182569 | Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group. | Davies SM et al. | 2008 | Blood |
| 19379518 | Development of a fingerprinting panel using medically relevant polymorphisms. | Cross DS et al. | 2009 | BMC medical genomics |
| 19388116 | Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. | Bedard K et al. | 2009 | Human mutation |
| 19423521 | Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma. | Han X et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19448608 | Analysis of the host pharmacogenetic background for prediction of outcome and toxicity in diffuse large B-cell lymphoma treated with R-CHOP21. | Rossi D et al. | 2009 | Leukemia |
| 20100625 | Association of p22phox gene C242T polymorphism with coronary artery disease: a meta-analysis. | Fang S et al. | 2010 | Thrombosis research |
| 20565774 | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. | Cross DS et al. | 2010 | BMC genetics |
| 20581851 | Exploring epistatic relationships of NO biosynthesis pathway genes in susceptibility to CHD. | Tu YC et al. | 2010 | Acta pharmacologica Sinica |
| 21048526 | Doxorubicin pathways: pharmacodynamics and adverse effects. | Thorn CF et al. | 2011 | Pharmacogenetics and genomics |
| 21902598 | Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms? | Gozal D et al. | 2012 | Antioxidants & redox signaling |
| 21962117 | Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus. | Vieira SM et al. | 2011 | BMC medical genetics |
| 21963893 | Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population. | Yan JT et al. | 2011 | Acta pharmacologica Sinica |
| 22024213 | A novel gene-environment interaction involved in endometriosis. | McCarty CA et al. | 2012 | International journal of gynaecology and obstetrics |
| 22199011 | Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. | Murabito JM et al. | 2012 | Circulation. Cardiovascular genetics |
| 22410402 | Association between rs4673 (C/T) and rs13306294 (A/G) haplotypes of NAD(P)H oxidase p22phox gene and severity of stenosis in coronary arteries. | Najafi M et al. | 2012 | Gene |
| 22470385 | CYBA Gene Polymorphisms and Adverse Outcomes in Acute Kidney Injury: A Prospective Cohort Study. | Perianayagam MC et al. | 2011 | Nephron extra |
| 22879966 | Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. | Verschuren JJ et al. | 2012 | PloS one |
| 22919264 | No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients. | Weiss J et al. | 2012 | Molecular vision |
| 23560644 | Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Ménière's disease. | Teranishi M et al. | 2013 | Free radical research |
| 23725037 | Polymorphism in the HMOX1 gene is associated with high levels of fetal hemoglobin in Brazilian patients with sickle cell anemia. | Gil GP et al. | 2013 | Hemoglobin |
| 23821607 | Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications. | Tarazona-Santos E et al. | 2013 | Molecular biology and evolution |
| 24156725 | Association of the C242T polymorphism in the NAD(P)H oxidase P22 phox gene with type 2 diabetes mellitus risk: a meta-analysis. | Sun Q et al. | 2014 | Current medical research and opinion |
| 24562334 | Genetics of oxidative stress in obesity. | Rupérez AI et al. | 2014 | International journal of molecular sciences |
| 24895604 | Antioxidant defense enzyme genes and asthma susceptibility: gender-specific effects and heterogeneity in gene-gene interactions between pathogenetic variants of the disease. | Polonikov AV et al. | 2014 | BioMed research international |
| 25168315 | Impact of genetic variability and treatment-related factors on outcome in early breast cancer patients receiving (neo-) adjuvant chemotherapy with 5-fluorouracil, epirubicin and cyclophosphamide, and docetaxel. | Vulsteke C et al. | 2014 | Breast cancer research and treatment |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 26627480 | Genetic predisposition to acute kidney injury--a systematic review. | Vilander LM et al. | 2015 | BMC nephrology |
| 26648684 | Update on genetics and diabetic retinopathy. | Hampton BM et al. | 2015 | Clinical ophthalmology (Auckland, N.Z.) |
| 26660092 | Association between NAD(P)H oxidase p22phox gene variants and acute myocardial infarction in a Han Chinese population. | Xu H et al. | 2016 | Herz |
| 26862503 | Cutting-edge technologies for diagnosis and monitoring of snoring in children. | Vlastos I et al. | 2016 | World journal of clinical pediatrics |
| 27277665 | Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. | Zholdybayeva EV et al. | 2016 | Human genomics |
| 27314008 | The CYBA Gene (⁎)49A>G Polymorphism (rs7195830) Is Associated with Hypertension in Patients with Coronary Artery Disease. | Nowak T et al. | 2016 | BioMed research international |
| 27618304 | The Value of Online Algorithms to Predict T-Cell Ligands Created by Genetic Variants. | van der Lee DI et al. | 2016 | PloS one |
| 27901128 | Heterozygote Advantage of the rs3794624 Polymorphism in CYBA for Resistance to Tuberculosis in Two Chinese Populations. | Liu Q et al. | 2016 | Scientific reports |
| 27926811 | p22phox C242T gene polymorphism and overt diabetic nephropathy: a meta-analysis of 1,452 participants. | Li YY et al. | 2017 | The Korean journal of internal medicine |
| 28232737 | Candidate Gene Association Studies of Anthracycline-induced Cardiotoxicity: A Systematic Review and Meta-analysis. | Leong SL et al. | 2017 | Scientific reports |
| 28233034 | Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders. | Tashi T et al. | 2017 | Journal of molecular medicine (Berlin, Germany) |
| 28233473 | Genetic variants in telomere-maintenance genes are associated with ovarian cancer risk and outcome. | Sun Y et al. | 2017 | Journal of cellular and molecular medicine |
| 28356848 | Genetic Variants of Cytochrome b-245, Alpha Polypeptide Gene and Premature Acute Myocardial Infarction Risk in an Iranian Population. | Amin F et al. | 2015 | Journal of medical biochemistry |
| 28474233 | Association analysis of rs1049255 and rs4673 transitions in p22phox gene with coronary artery disease: A case-control study and a computational analysis. | Mazaheri M et al. | 2017 | Irish journal of medical science |
| 28485375 | Impact of NADPH oxidase functional polymorphisms in acute myeloid leukemia induction chemotherapy. | Megías-Vericat JE et al. | 2018 | The pharmacogenomics journal |
| 28529598 | Biological interaction of cigarette smoking on the association between genetic polymorphisms involved in inflammation and the risk of lung cancer: A case-control study in Japan. | Yamamoto Y et al. | 2017 | Oncology letters |
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| 29132304 | The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. | Sun J et al. | 2017 | BMC medical genetics |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.