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.
rs4291
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:63476833 (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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.363229 (96143/264690, TOPMED)T=0.365653 (51111/139780, GnomAD)T=0.34724 (27295/78606, PAGE_STUDY) (+ 17 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ACE : 2KB Upstream Variant
- Publications
- 45 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 17870 | T=0.37913 | A=0.62087, C=0.00000 |
| European | Sub | 13720 | T=0.38776 | A=0.61224, C=0.00000 |
| African | Sub | 2494 | T=0.3565 | A=0.6435, C=0.0000 |
| African Others | Sub | 90 | T=0.38 | A=0.62, C=0.00 |
| African American | Sub | 2404 | T=0.3557 | A=0.6443, C=0.0000 |
| Asian | Sub | 112 | T=0.330 | A=0.670, C=0.000 |
| East Asian | Sub | 86 | T=0.38 | A=0.62, C=0.00 |
| Other Asian | Sub | 26 | T=0.15 | A=0.85, C=0.00 |
| Latin American 1 | Sub | 146 | T=0.404 | A=0.596, C=0.000 |
| Latin American 2 | Sub | 610 | T=0.307 | A=0.693, C=0.000 |
| South Asian | Sub | 98 | T=0.38 | A=0.62, C=0.00 |
| Other | Sub | 690 | T=0.357 | A=0.643, C=0.000 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | T=0.363229 | A=0.636771 |
| gnomAD - Genomes | Global | Study-wide | 139780 | T=0.365653 | A=0.634347 |
| gnomAD - Genomes | European | Sub | 75648 | T=0.38100 | A=0.61900 |
| gnomAD - Genomes | African | Sub | 41910 | T=0.34569 | A=0.65431 |
| gnomAD - Genomes | American | Sub | 13640 | T=0.32397 | A=0.67603 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | T=0.4431 | A=0.5569 |
| gnomAD - Genomes | East Asian | Sub | 3116 | T=0.3626 | A=0.6374 |
| gnomAD - Genomes | Other | Sub | 2146 | T=0.3639 | A=0.6361 |
| The PAGE Study | Global | Study-wide | 78606 | T=0.34724 | A=0.65276 |
| The PAGE Study | AfricanAmerican | Sub | 32426 | T=0.35641 | A=0.64359 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.30074 | A=0.69926 |
| The PAGE Study | Asian | Sub | 8316 | T=0.3753 | A=0.6247 |
| The PAGE Study | PuertoRican | Sub | 7916 | T=0.3579 | A=0.6421 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | T=0.3489 | A=0.6511 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.3835 | A=0.6165 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.3519 | A=0.6481 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.2767 | A=0.7233 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.2765 | A=0.7235 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.3341 | A=0.6659 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.393 | A=0.607 |
| 14KJPN | JAPANESE | Study-wide | 28250 | T=0.35618 | A=0.64382 |
| Allele Frequency Aggregator | Total | Global | 17870 | T=0.37913 | A=0.62087, C=0.00000 |
| Allele Frequency Aggregator | European | Sub | 13720 | T=0.38776 | A=0.61224, C=0.00000 |
| Allele Frequency Aggregator | African | Sub | 2494 | T=0.3565 | A=0.6435, C=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 690 | T=0.357 | A=0.643, C=0.000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | T=0.307 | A=0.693, C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | T=0.404 | A=0.596, C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | T=0.330 | A=0.670, C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | T=0.38 | A=0.62, C=0.00 |
| 8.3KJPN | JAPANESE | Study-wide | 16756 | T=0.35951 | A=0.64049 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.3492 | A=0.6508 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.3606 | A=0.6394 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.3681 | A=0.6319 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.3594 | A=0.6406 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.3615 | A=0.6385 |
| 1000Genomes_30x | American | Sub | 980 | T=0.277 | A=0.723 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.3486 | A=0.6514 |
| 1000Genomes | African | Sub | 1322 | T=0.3548 | A=0.6452 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.3542 | A=0.6458 |
| 1000Genomes | Europe | Sub | 1006 | T=0.3718 | A=0.6282 |
| 1000Genomes | South Asian | Sub | 978 | T=0.362 | A=0.638 |
| 1000Genomes | American | Sub | 694 | T=0.277 | A=0.723 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4478 | T=0.3729 | A=0.6271 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.3892 | A=0.6108 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.3716 | A=0.6284 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2918 | T=0.3931 | A=0.6069, C=0.0000 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | T=0.404 | A=0.596 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | T=0.404 | A=0.596 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.418 | A=0.582 |
| SGDP_PRJ | Global | Study-wide | 470 | T=0.245 | A=0.755 |
| Qatari | Global | Study-wide | 216 | T=0.417 | A=0.583 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | T=0.369 | A=0.631 |
| Siberian | Global | Study-wide | 50 | T=0.26 | A=0.74 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.42 | A=0.57 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 38 | T=0.53 | A=0.47 |
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 17 | NC_000017.11:g.63476833T>A |
| GRCh38.p14 chr 17 | NC_000017.11:g.63476833T>C |
| GRCh37.p13 chr 17 | NC_000017.10:g.61554194T>A |
| GRCh37.p13 chr 17 | NC_000017.10:g.61554194T>C |
| ACE RefSeqGene | NG_011648.1:g.4761T>A |
| ACE RefSeqGene | NG_011648.1:g.4761T>C |
Gene: ACE, angiotensin I converting enzyme
(plus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ACE transcript variant 1 | NM_000789.4:c. | N/A | Upstream Transcript Variant |
| ACE transcript variant 4 | NM_001382700.1:c. | N/A | Upstream Transcript Variant |
| ACE transcript variant 5 | NM_001382701.1:c. | N/A | Upstream Transcript Variant |
| ACE transcript variant 3 | NM_001178057.2:c. | N/A | N/A |
| ACE transcript variant 6 | NM_001382702.1:c. | N/A | N/A |
| ACE transcript variant 2 | NM_152830.3:c. | N/A | N/A |
| ACE transcript variant 7 | NR_168483.1:n. | N/A | N/A |
| ACE transcript variant X1 | XM_006721737.4:c. | N/A | N/A |
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: A (allele ID:
1220184
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001610167.3 | not provided | 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 | T= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.63476833= | NC_000017.11:g.63476833T>A | NC_000017.11:g.63476833T>C |
| GRCh37.p13 chr 17 | NC_000017.10:g.61554194= | NC_000017.10:g.61554194T>A | NC_000017.10:g.61554194T>C |
| ACE RefSeqGene | NG_011648.1:g.4761= | NG_011648.1:g.4761T>A | NG_011648.1:g.4761T>C |
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#.
64 SubSNP,
20 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | DEBNICK | ss4680 | Sep 19, 2000 (36) |
| 2 | SC_JCM | ss5721893 | Feb 20, 2003 (111) |
| 3 | WI_SSAHASNP | ss12390675 | Jul 11, 2003 (116) |
| 4 | CSHL-HAPMAP | ss16730759 | Feb 27, 2004 (120) |
| 5 | IMCJ-GDT | ss22886480 | Apr 05, 2004 (121) |
| 6 | ABI | ss44039878 | Mar 13, 2006 (126) |
| 7 | BCMHGSC_JDW | ss90633982 | Mar 24, 2008 (129) |
| 8 | BGI | ss106514508 | Feb 04, 2009 (130) |
| 9 | 1000GENOMES | ss113710484 | Jan 25, 2009 (130) |
| 10 | BCM-HGSC-SUB | ss207860183 | Jul 04, 2010 (132) |
| 11 | 1000GENOMES | ss227611634 | Jul 14, 2010 (132) |
| 12 | 1000GENOMES | ss237290859 | Jul 15, 2010 (132) |
| 13 | 1000GENOMES | ss243576137 | Jul 15, 2010 (132) |
| 14 | ILLUMINA | ss244299531 | Jul 04, 2010 (132) |
| 15 | PJP | ss291978322 | May 09, 2011 (134) |
| 16 | SSMP | ss661164601 | Apr 25, 2013 (138) |
| 17 | EVA-GONL | ss993247488 | Aug 21, 2014 (142) |
| 18 | JMKIDD_LAB | ss1081153460 | Aug 21, 2014 (142) |
| 19 | 1000GENOMES | ss1359206501 | Aug 21, 2014 (142) |
| 20 | DDI | ss1428072197 | Apr 01, 2015 (144) |
| 21 | EVA_GENOME_DK | ss1578209860 | Apr 01, 2015 (144) |
| 22 | EVA_UK10K_ALSPAC | ss1635930824 | Apr 01, 2015 (144) |
| 23 | EVA_UK10K_TWINSUK | ss1678924857 | Apr 01, 2015 (144) |
| 24 | EVA_DECODE | ss1697295009 | Apr 01, 2015 (144) |
| 25 | WEILL_CORNELL_DGM | ss1936707318 | Feb 12, 2016 (147) |
| 26 | ILLUMINA | ss1959760268 | Feb 12, 2016 (147) |
| 27 | JJLAB | ss2029126758 | Sep 14, 2016 (149) |
| 28 | USC_VALOUEV | ss2157607645 | Dec 20, 2016 (150) |
| 29 | HUMAN_LONGEVITY | ss2217953996 | Dec 20, 2016 (150) |
| 30 | SYSTEMSBIOZJU | ss2629057757 | Nov 08, 2017 (151) |
| 31 | GRF | ss2702170290 | Nov 08, 2017 (151) |
| 32 | GNOMAD | ss2951510870 | Nov 08, 2017 (151) |
| 33 | SWEGEN | ss3015764801 | Nov 08, 2017 (151) |
| 34 | ILLUMINA | ss3021795118 | Nov 08, 2017 (151) |
| 35 | BIOINF_KMB_FNS_UNIBA | ss3028385029 | Nov 08, 2017 (151) |
| 36 | CSHL | ss3351801179 | Nov 08, 2017 (151) |
| 37 | ILLUMINA | ss3652212632 | Oct 12, 2018 (152) |
| 38 | EGCUT_WGS | ss3682636875 | Jul 13, 2019 (153) |
| 39 | EVA_DECODE | ss3700743103 | Jul 13, 2019 (153) |
| 40 | ILLUMINA | ss3725634889 | Jul 13, 2019 (153) |
| 41 | ACPOP | ss3742142322 | Jul 13, 2019 (153) |
| 42 | EVA | ss3754829656 | Jul 13, 2019 (153) |
| 43 | PAGE_CC | ss3771938256 | Jul 13, 2019 (153) |
| 44 | KHV_HUMAN_GENOMES | ss3820094361 | Jul 13, 2019 (153) |
| 45 | EVA | ss3834934554 | Apr 27, 2020 (154) |
| 46 | EVA | ss3841079486 | Apr 27, 2020 (154) |
| 47 | EVA | ss3846576946 | Apr 27, 2020 (154) |
| 48 | SGDP_PRJ | ss3886037820 | Apr 27, 2020 (154) |
| 49 | KRGDB | ss3935784411 | Apr 27, 2020 (154) |
| 50 | EVA | ss3984725234 | Apr 26, 2021 (155) |
| 51 | EVA | ss3985798348 | Apr 26, 2021 (155) |
| 52 | TOPMED | ss5040935207 | Apr 26, 2021 (155) |
| 53 | TOMMO_GENOMICS | ss5223082453 | Apr 26, 2021 (155) |
| 54 | 1000G_HIGH_COVERAGE | ss5303628470 | Oct 16, 2022 (156) |
| 55 | EVA | ss5428486068 | Oct 16, 2022 (156) |
| 56 | HUGCELL_USP | ss5496622441 | Oct 16, 2022 (156) |
| 57 | 1000G_HIGH_COVERAGE | ss5607591394 | Oct 16, 2022 (156) |
| 58 | SANFORD_IMAGENETICS | ss5660374979 | Oct 16, 2022 (156) |
| 59 | TOMMO_GENOMICS | ss5779499945 | Oct 16, 2022 (156) |
| 60 | YY_MCH | ss5816654663 | Oct 16, 2022 (156) |
| 61 | EVA | ss5834171528 | Oct 16, 2022 (156) |
| 62 | EVA | ss5914485209 | Oct 16, 2022 (156) |
| 63 | EVA | ss5951770394 | Oct 16, 2022 (156) |
| 64 | EVA | ss5980976595 | Oct 16, 2022 (156) |
| 65 | 1000Genomes | NC_000017.10 - 61554194 | Oct 12, 2018 (152) |
| 66 | 1000Genomes_30x | NC_000017.11 - 63476833 | Oct 16, 2022 (156) |
| 67 | The Avon Longitudinal Study of Parents and Children | NC_000017.10 - 61554194 | Oct 12, 2018 (152) |
| 68 | Genetic variation in the Estonian population | NC_000017.10 - 61554194 | Oct 12, 2018 (152) |
| 69 | The Danish reference pan genome | NC_000017.10 - 61554194 | Apr 27, 2020 (154) |
| 70 | gnomAD - Genomes | NC_000017.11 - 63476833 | Apr 26, 2021 (155) |
| 71 | KOREAN population from KRGDB | NC_000017.10 - 61554194 | Apr 27, 2020 (154) |
| 72 | Northern Sweden | NC_000017.10 - 61554194 | Jul 13, 2019 (153) |
| 73 | The PAGE Study | NC_000017.11 - 63476833 | Jul 13, 2019 (153) |
| 74 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000017.10 - 61554194 | Apr 26, 2021 (155) |
| 75 | CNV burdens in cranial meningiomas | NC_000017.10 - 61554194 | Apr 26, 2021 (155) |
| 76 | Qatari | NC_000017.10 - 61554194 | Apr 27, 2020 (154) |
| 77 | SGDP_PRJ | NC_000017.10 - 61554194 | Apr 27, 2020 (154) |
| 78 | Siberian | NC_000017.10 - 61554194 | Apr 27, 2020 (154) |
| 79 | 8.3KJPN | NC_000017.10 - 61554194 | Apr 26, 2021 (155) |
| 80 | 14KJPN | NC_000017.11 - 63476833 | Oct 16, 2022 (156) |
| 81 | TopMed | NC_000017.11 - 63476833 | Apr 26, 2021 (155) |
| 82 | UK 10K study - Twins | NC_000017.10 - 61554194 | Oct 12, 2018 (152) |
| 83 | A Vietnamese Genetic Variation Database | NC_000017.10 - 61554194 | Jul 13, 2019 (153) |
| 84 | ALFA | NC_000017.11 - 63476833 | Apr 26, 2021 (155) |
| 85 | ClinVar | RCV001610167.3 | 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss90633982, ss113710484, ss207860183, ss291978322, ss1697295009 | NC_000017.9:58907925:T:A | NC_000017.11:63476832:T:A | (self) |
| 72469576, 40157679, 28375123, 4410057, 42961805, 15427187, 1024275, 274782, 18749240, 38054800, 10123999, 81051760, 40157679, 8878288, ss227611634, ss237290859, ss243576137, ss661164601, ss993247488, ss1081153460, ss1359206501, ss1428072197, ss1578209860, ss1635930824, ss1678924857, ss1936707318, ss1959760268, ss2029126758, ss2157607645, ss2629057757, ss2702170290, ss2951510870, ss3015764801, ss3021795118, ss3351801179, ss3652212632, ss3682636875, ss3742142322, ss3754829656, ss3834934554, ss3841079486, ss3886037820, ss3935784411, ss3984725234, ss3985798348, ss5223082453, ss5428486068, ss5660374979, ss5834171528, ss5951770394, ss5980976595 | NC_000017.10:61554193:T:A | NC_000017.11:63476832:T:A | (self) |
| RCV001610167.3, 95117329, 511418235, 1159725, 113337049, 256480869, 4510386823, ss2217953996, ss3028385029, ss3700743103, ss3725634889, ss3771938256, ss3820094361, ss3846576946, ss5040935207, ss5303628470, ss5496622441, ss5607591394, ss5779499945, ss5816654663, ss5914485209 | NC_000017.11:63476832:T:A | NC_000017.11:63476832:T:A | (self) |
| ss12390675 | NT_010783.13:16846125:T:A | NC_000017.11:63476832:T:A | (self) |
| ss16730759 | NT_010783.14:20206204:T:A | NC_000017.11:63476832:T:A | (self) |
| ss4680, ss5721893, ss22886480, ss44039878, ss106514508, ss244299531 | NT_010783.15:26828345:T:A | NC_000017.11:63476832:T:A | (self) |
| 42961805, ss3935784411 | NC_000017.10:61554193:T:C | NC_000017.11:63476832:T:C | (self) |
| 4510386823 | NC_000017.11:63476832:T:C | NC_000017.11:63476832:T:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
45
citations for rs4291
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 14986105 | Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease. | Kehoe PG et al. | 2004 | Human genetics |
| 16924268 | Polymorphisms in the angiotensin-converting enzyme gene are associated with unipolar depression, ACE activity and hypercortisolism. | Baghai TC et al. | 2006 | Molecular psychiatry |
| 17092869 | Haplotype structure of five SNPs within the ACE gene in the Tunisian population. | Rebaï M et al. | 2006 | Annals of human biology |
| 17173513 | No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 m. | Koehle MS et al. | 2006 | High altitude medicine & biology |
| 18076107 | Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis. | Thornton-Wells TA et al. | 2008 | Genetic epidemiology |
| 18431000 | Haplotypes across ACE and the risk of Alzheimer's disease: the three-city study. | Bruandet A et al. | 2008 | Journal of Alzheimer's disease |
| 18779388 | Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease. | Kavvoura FK et al. | 2008 | American journal of epidemiology |
| 18805939 | Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. | Tempfer CB et al. | 2009 | Human reproduction update |
| 18813964 | Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. | Kauwe JS et al. | 2009 | Neurogenetics |
| 18830724 | Assessment of Alzheimer's disease case-control associations using family-based methods. | Schjeide BM et al. | 2009 | Neurogenetics |
| 19105203 | An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. | Edwards TL et al. | 2009 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19379518 | Development of a fingerprinting panel using medically relevant polymorphisms. | Cross DS et al. | 2009 | BMC medical genomics |
| 19539712 | An age effect on the association of common variants of ACE with Alzheimer's disease. | Helbecque N et al. | 2009 | Neuroscience letters |
| 19713413 | Association of angiotensin-converting enzyme gene promoter single nucleotide polymorphisms and haplotype with major depression in a northeastern Thai population. | Angunsri R et al. | 2009 | Journal of the renin-angiotensin-aldosterone system |
| 19898265 | PharmGKB summary: very important pharmacogene information for angiotensin-converting enzyme. | Thorn CF et al. | 2010 | Pharmacogenetics and genomics |
| 20565774 | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. | Cross DS et al. | 2010 | BMC genetics |
| 20577119 | Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study. | Irvin MR et al. | 2010 | Journal of hypertension |
| 20682755 | A pilot study of gene/gene and gene/environment interactions in Alzheimer disease. | Ghebranious N et al. | 2011 | Clinical medicine & research |
| 21157371 | A pharmacogenetic analysis of determinants of hypertension and blood pressure response to angiotensin-converting enzyme inhibitor therapy in patients with vascular disease and healthy individuals. | Brugts JJ et al. | 2011 | Journal of hypertension |
| 21297258 | A multi-center study of ACE and the risk of late-onset Alzheimer's disease. | Belbin O et al. | 2011 | Journal of Alzheimer's disease |
| 21537449 | Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. | Webster J et al. | 2010 | International journal of molecular epidemiology and genetics |
| 21547229 | Neuroimaging measures as endophenotypes in Alzheimer's disease. | Braskie MN et al. | 2011 | International journal of Alzheimer's disease |
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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.