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.
rs2230806
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:104858586 (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
- C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.292740 (79466/271456, ALFA)T=0.404314 (107018/264690, TOPMED)T=0.323634 (81377/251448, GnomAD_exome) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ABCA1 : Missense Variant
- Publications
- 72 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.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 287730 | C=0.702016 | T=0.297984 |
European | Sub | 244768 | C=0.724686 | T=0.275314 |
African | Sub | 13018 | C=0.37802 | T=0.62198 |
African Others | Sub | 456 | C=0.318 | T=0.682 |
African American | Sub | 12562 | C=0.38019 | T=0.61981 |
Asian | Sub | 836 | C=0.531 | T=0.469 |
East Asian | Sub | 660 | C=0.527 | T=0.473 |
Other Asian | Sub | 176 | C=0.545 | T=0.455 |
Latin American 1 | Sub | 1196 | C=0.5870 | T=0.4130 |
Latin American 2 | Sub | 6924 | C=0.6791 | T=0.3209 |
South Asian | Sub | 5044 | C=0.6182 | T=0.3818 |
Other | Sub | 15944 | C=0.67260 | T=0.32740 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 271456 | C=0.707260 | T=0.292740 |
Allele Frequency Aggregator | European | Sub | 234762 | C=0.724410 | T=0.275590 |
Allele Frequency Aggregator | Other | Sub | 14512 | C=0.67399 | T=0.32601 |
Allele Frequency Aggregator | African | Sub | 8182 | C=0.3885 | T=0.6115 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6924 | C=0.6791 | T=0.3209 |
Allele Frequency Aggregator | South Asian | Sub | 5044 | C=0.6182 | T=0.3818 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1196 | C=0.5870 | T=0.4130 |
Allele Frequency Aggregator | Asian | Sub | 836 | C=0.531 | T=0.469 |
TopMed | Global | Study-wide | 264690 | C=0.595686 | T=0.404314 |
gnomAD - Exomes | Global | Study-wide | 251448 | C=0.676366 | T=0.323634 |
gnomAD - Exomes | European | Sub | 135382 | C=0.734522 | T=0.265478 |
gnomAD - Exomes | Asian | Sub | 49008 | C=0.60861 | T=0.39139 |
gnomAD - Exomes | American | Sub | 34588 | C=0.67515 | T=0.32485 |
gnomAD - Exomes | African | Sub | 16254 | C=0.36994 | T=0.63006 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | C=0.71944 | T=0.28056 |
gnomAD - Exomes | Other | Sub | 6136 | C=0.6822 | T=0.3178 |
gnomAD - Genomes | Global | Study-wide | 140020 | C=0.613070 | T=0.386930 |
gnomAD - Genomes | European | Sub | 75864 | C=0.73188 | T=0.26812 |
gnomAD - Genomes | African | Sub | 41930 | C=0.37772 | T=0.62228 |
gnomAD - Genomes | American | Sub | 13628 | C=0.65747 | T=0.34253 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.7246 | T=0.2754 |
gnomAD - Genomes | East Asian | Sub | 3124 | C=0.5791 | T=0.4209 |
gnomAD - Genomes | Other | Sub | 2152 | C=0.6064 | T=0.3936 |
ExAC | Global | Study-wide | 121360 | C=0.670064 | T=0.329936 |
ExAC | Europe | Sub | 73348 | C=0.73331 | T=0.26669 |
ExAC | Asian | Sub | 25138 | C=0.60522 | T=0.39478 |
ExAC | American | Sub | 11564 | C=0.67676 | T=0.32324 |
ExAC | African | Sub | 10402 | C=0.37397 | T=0.62603 |
ExAC | Other | Sub | 908 | C=0.663 | T=0.337 |
14KJPN | JAPANESE | Study-wide | 28258 | C=0.48234 | T=0.51766 |
8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.48198 | T=0.51802 |
1000Genomes_30x | Global | Study-wide | 6404 | C=0.5587 | T=0.4413 |
1000Genomes_30x | African | Sub | 1786 | C=0.2940 | T=0.7060 |
1000Genomes_30x | Europe | Sub | 1266 | C=0.7694 | T=0.2306 |
1000Genomes_30x | South Asian | Sub | 1202 | C=0.6314 | T=0.3686 |
1000Genomes_30x | East Asian | Sub | 1170 | C=0.5855 | T=0.4145 |
1000Genomes_30x | American | Sub | 980 | C=0.648 | T=0.352 |
1000Genomes | Global | Study-wide | 5008 | C=0.5603 | T=0.4397 |
1000Genomes | African | Sub | 1322 | C=0.2897 | T=0.7103 |
1000Genomes | East Asian | Sub | 1008 | C=0.5853 | T=0.4147 |
1000Genomes | Europe | Sub | 1006 | C=0.7575 | T=0.2425 |
1000Genomes | South Asian | Sub | 978 | C=0.633 | T=0.367 |
1000Genomes | American | Sub | 694 | C=0.651 | T=0.349 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.7254 | T=0.2746 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7322 | T=0.2678 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7414 | T=0.2586 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.5201 | G=0.0000, T=0.4799 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2072 | C=0.5574 | T=0.4426 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 468 | C=0.594 | T=0.406 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.553 | T=0.447 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 348 | C=0.603 | T=0.397 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.719 | T=0.281 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 238 | C=0.210 | T=0.790 |
HGDP-CEPH-db Supplement 1 | America | Sub | 214 | C=0.654 | T=0.346 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 70 | C=0.26 | T=0.74 |
HapMap | Global | Study-wide | 1890 | C=0.4974 | T=0.5026 |
HapMap | American | Sub | 770 | C=0.644 | T=0.356 |
HapMap | African | Sub | 690 | C=0.267 | T=0.733 |
HapMap | Asian | Sub | 254 | C=0.559 | T=0.441 |
HapMap | Europe | Sub | 176 | C=0.670 | T=0.330 |
Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.5186 | T=0.4814 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.780 | T=0.220 |
CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.532 | T=0.468 |
CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.532 | T=0.468 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 616 | C=0.604 | T=0.396 |
Northern Sweden | ACPOP | Study-wide | 600 | C=0.792 | T=0.208 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.717 | T=0.283 |
SGDP_PRJ | Global | Study-wide | 366 | C=0.336 | T=0.664 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.803 | T=0.197 |
Qatari | Global | Study-wide | 216 | C=0.560 | T=0.440 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 96 | C=0.90 | T=0.10 |
The Danish reference pan genome | Danish | Study-wide | 40 | C=0.88 | T=0.12 |
Siberian | Global | Study-wide | 26 | C=0.42 | T=0.58 |
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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 9 | NC_000009.12:g.104858586C>G |
GRCh38.p14 chr 9 | NC_000009.12:g.104858586C>T |
GRCh37.p13 chr 9 | NC_000009.11:g.107620867C>G |
GRCh37.p13 chr 9 | NC_000009.11:g.107620867C>T |
ABCA1 RefSeqGene (LRG_542) | NG_007981.1:g.74570G>C |
ABCA1 RefSeqGene (LRG_542) | NG_007981.1:g.74570G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ABCA1 transcript | NM_005502.4:c.656G>C | R [AGG] > T [ACG] | Coding Sequence Variant |
phospholipid-transporting ATPase ABCA1 | NP_005493.2:p.Arg219Thr | R (Arg) > T (Thr) | Missense Variant |
ABCA1 transcript | NM_005502.4:c.656G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
phospholipid-transporting ATPase ABCA1 | NP_005493.2:p.Arg219Lys | R (Arg) > K (Lys) | Missense Variant |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000010114.7 | Coronary heart disease in familial hypercholesterolemia, protection against | Benign |
RCV000310562.3 | Hypoalphalipoproteinemia, primary, 1 | Benign |
RCV000367106.5 | Tangier disease | Benign |
RCV001512056.5 | not provided | Benign |
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 | C= | G | T |
---|---|---|---|
GRCh38.p14 chr 9 | NC_000009.12:g.104858586= | NC_000009.12:g.104858586C>G | NC_000009.12:g.104858586C>T |
GRCh37.p13 chr 9 | NC_000009.11:g.107620867= | NC_000009.11:g.107620867C>G | NC_000009.11:g.107620867C>T |
ABCA1 RefSeqGene (LRG_542) | NG_007981.1:g.74570= | NG_007981.1:g.74570G>C | NG_007981.1:g.74570G>A |
ABCA1 transcript | NM_005502.4:c.656= | NM_005502.4:c.656G>C | NM_005502.4:c.656G>A |
ABCA1 transcript | NM_005502.3:c.656= | NM_005502.3:c.656G>C | NM_005502.3:c.656G>A |
phospholipid-transporting ATPase ABCA1 | NP_005493.2:p.Arg219= | NP_005493.2:p.Arg219Thr | NP_005493.2:p.Arg219Lys |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | NUSPAE | ss3188685 | Aug 15, 2001 (105) |
2 | SC_JCM | ss3488736 | Sep 28, 2001 (105) |
3 | RIKENSNPRC | ss5603801 | Dec 12, 2002 (110) |
4 | BCM_SSAHASNP | ss10514830 | Jul 11, 2003 (116) |
5 | SNP500CANCER | ss12675189 | Nov 17, 2003 (118) |
6 | SC_SNP | ss15710351 | Feb 27, 2004 (120) |
7 | CSHL-HAPMAP | ss20370337 | Feb 27, 2004 (120) |
8 | IMCJ-GDT | ss22886412 | Apr 05, 2004 (121) |
9 | ABI | ss43782758 | Mar 13, 2006 (126) |
10 | APPLERA_GI | ss48413631 | Mar 13, 2006 (126) |
11 | SHGC | ss65824203 | Nov 30, 2006 (127) |
12 | ILLUMINA | ss66644090 | Nov 30, 2006 (127) |
13 | ILLUMINA | ss67235627 | Nov 30, 2006 (127) |
14 | ILLUMINA | ss67631739 | Nov 30, 2006 (127) |
15 | CSHL-HAPMAP | ss68377571 | Jan 12, 2007 (127) |
16 | PERLEGEN | ss69298514 | May 17, 2007 (127) |
17 | ILLUMINA | ss70713958 | May 27, 2008 (130) |
18 | ILLUMINA | ss71281654 | May 17, 2007 (127) |
19 | AFFY | ss74806961 | Aug 16, 2007 (128) |
20 | ILLUMINA | ss75538321 | Dec 06, 2007 (129) |
21 | CGM_KYOTO | ss76877191 | Dec 06, 2007 (129) |
22 | HGSV | ss78067773 | Dec 06, 2007 (129) |
23 | ILLUMINA | ss79121771 | Dec 16, 2007 (130) |
24 | KRIBB_YJKIM | ss84002031 | Dec 16, 2007 (130) |
25 | HGSV | ss84377835 | Dec 16, 2007 (130) |
26 | 1000GENOMES | ss108969840 | Jan 23, 2009 (130) |
27 | 1000GENOMES | ss114871255 | Jan 25, 2009 (130) |
28 | ILLUMINA-UK | ss115776822 | Feb 14, 2009 (130) |
29 | ILLUMINA | ss120037348 | Dec 01, 2009 (131) |
30 | ILLUMINA | ss121957475 | Dec 01, 2009 (131) |
31 | ILLUMINA | ss153888389 | Dec 01, 2009 (131) |
32 | GMI | ss157829796 | Dec 01, 2009 (131) |
33 | ILLUMINA | ss159370162 | Dec 01, 2009 (131) |
34 | SEATTLESEQ | ss159718829 | Dec 01, 2009 (131) |
35 | ILLUMINA | ss160517657 | Dec 01, 2009 (131) |
36 | ENSEMBL | ss161683862 | Dec 01, 2009 (131) |
37 | COMPLETE_GENOMICS | ss164592760 | Jul 04, 2010 (132) |
38 | COMPLETE_GENOMICS | ss165610295 | Jul 04, 2010 (132) |
39 | ILLUMINA | ss171105150 | Jul 04, 2010 (132) |
40 | ILLUMINA | ss173194659 | Jul 04, 2010 (132) |
41 | BUSHMAN | ss200716253 | Jul 04, 2010 (132) |
42 | 1000GENOMES | ss224382337 | Jul 14, 2010 (132) |
43 | 1000GENOMES | ss234918476 | Jul 15, 2010 (132) |
44 | 1000GENOMES | ss241675666 | Jul 15, 2010 (132) |
45 | OMICIA | ss244238744 | Aug 29, 2012 (137) |
46 | ILLUMINA | ss244288064 | Jul 04, 2010 (132) |
47 | BL | ss254451140 | May 09, 2011 (134) |
48 | GMI | ss280347982 | May 04, 2012 (137) |
49 | PJP | ss294344365 | May 09, 2011 (134) |
50 | NHLBI-ESP | ss342279560 | May 09, 2011 (134) |
51 | OMIM-CURATED-RECORDS | ss342562846 | Mar 29, 2011 (133) |
52 | ILLUMINA | ss480472823 | May 04, 2012 (137) |
53 | ILLUMINA | ss480487159 | May 04, 2012 (137) |
54 | ILLUMINA | ss481284970 | Sep 08, 2015 (146) |
55 | ILLUMINA | ss485033889 | May 04, 2012 (137) |
56 | 1000GENOMES | ss490982234 | May 04, 2012 (137) |
57 | EXOME_CHIP | ss491425866 | May 04, 2012 (137) |
58 | CLINSEQ_SNP | ss491940424 | May 04, 2012 (137) |
59 | ILLUMINA | ss537057790 | Sep 08, 2015 (146) |
60 | TISHKOFF | ss561546673 | Apr 25, 2013 (138) |
61 | SSMP | ss656043960 | Apr 25, 2013 (138) |
62 | ILLUMINA | ss779058581 | Sep 08, 2015 (146) |
63 | ILLUMINA | ss782963190 | Sep 08, 2015 (146) |
64 | ILLUMINA | ss783925206 | Sep 08, 2015 (146) |
65 | ILLUMINA | ss825452289 | Apr 01, 2015 (144) |
66 | ILLUMINA | ss832219430 | Sep 08, 2015 (146) |
67 | ILLUMINA | ss832881990 | Jul 13, 2019 (153) |
68 | ILLUMINA | ss834521702 | Sep 08, 2015 (146) |
69 | JMKIDD_LAB | ss974471669 | Aug 21, 2014 (142) |
70 | EVA-GONL | ss986839517 | Aug 21, 2014 (142) |
71 | JMKIDD_LAB | ss1067505732 | Aug 21, 2014 (142) |
72 | JMKIDD_LAB | ss1076504987 | Aug 21, 2014 (142) |
73 | 1000GENOMES | ss1334925698 | Aug 21, 2014 (142) |
74 | DDI | ss1431920139 | Apr 01, 2015 (144) |
75 | EVA_GENOME_DK | ss1583204501 | Apr 01, 2015 (144) |
76 | EVA_FINRISK | ss1584063636 | Apr 01, 2015 (144) |
77 | EVA_DECODE | ss1596476185 | Apr 01, 2015 (144) |
78 | EVA_UK10K_ALSPAC | ss1623275185 | Apr 01, 2015 (144) |
79 | EVA_UK10K_TWINSUK | ss1666269218 | Apr 01, 2015 (144) |
80 | EVA_EXAC | ss1689591100 | Apr 01, 2015 (144) |
81 | EVA_MGP | ss1711232249 | Apr 01, 2015 (144) |
82 | EVA_SVP | ss1713129282 | Apr 01, 2015 (144) |
83 | ILLUMINA | ss1752751632 | Sep 08, 2015 (146) |
84 | HAMMER_LAB | ss1806101580 | Sep 08, 2015 (146) |
85 | WEILL_CORNELL_DGM | ss1930154735 | Feb 12, 2016 (147) |
86 | ILLUMINA | ss1946264882 | Feb 12, 2016 (147) |
87 | ILLUMINA | ss1959203296 | Feb 12, 2016 (147) |
88 | GENOMED | ss1971276814 | Jul 19, 2016 (147) |
89 | JJLAB | ss2025795921 | Sep 14, 2016 (149) |
90 | USC_VALOUEV | ss2154024604 | Dec 20, 2016 (150) |
91 | HUMAN_LONGEVITY | ss2313325552 | Dec 20, 2016 (150) |
92 | SYSTEMSBIOZJU | ss2627366404 | Nov 08, 2017 (151) |
93 | ILLUMINA | ss2634898724 | Nov 08, 2017 (151) |
94 | ILLUMINA | ss2634898725 | Nov 08, 2017 (151) |
95 | ILLUMINA | ss2635197761 | Nov 08, 2017 (151) |
96 | GRF | ss2709900459 | Nov 08, 2017 (151) |
97 | ILLUMINA | ss2711168363 | Nov 08, 2017 (151) |
98 | GNOMAD | ss2737769414 | Nov 08, 2017 (151) |
99 | GNOMAD | ss2748236934 | Nov 08, 2017 (151) |
100 | GNOMAD | ss2881712918 | Nov 08, 2017 (151) |
101 | AFFY | ss2985468927 | Nov 08, 2017 (151) |
102 | SWEGEN | ss3005375187 | Nov 08, 2017 (151) |
103 | ILLUMINA | ss3022951140 | Nov 08, 2017 (151) |
104 | EVA_SAMSUNG_MC | ss3023064788 | Nov 08, 2017 (151) |
105 | BIOINF_KMB_FNS_UNIBA | ss3026679527 | Nov 08, 2017 (151) |
106 | CSHL | ss3348797065 | Nov 08, 2017 (151) |
107 | ILLUMINA | ss3625988526 | Oct 12, 2018 (152) |
108 | ILLUMINA | ss3630323277 | Oct 12, 2018 (152) |
109 | ILLUMINA | ss3632789124 | Oct 12, 2018 (152) |
110 | ILLUMINA | ss3633542948 | Oct 12, 2018 (152) |
111 | ILLUMINA | ss3634271633 | Oct 12, 2018 (152) |
112 | ILLUMINA | ss3635225550 | Oct 12, 2018 (152) |
113 | ILLUMINA | ss3635949419 | Oct 12, 2018 (152) |
114 | ILLUMINA | ss3636973963 | Oct 12, 2018 (152) |
115 | ILLUMINA | ss3637702767 | Oct 12, 2018 (152) |
116 | ILLUMINA | ss3638827748 | Oct 12, 2018 (152) |
117 | ILLUMINA | ss3639419169 | Oct 12, 2018 (152) |
118 | ILLUMINA | ss3639743042 | Oct 12, 2018 (152) |
119 | ILLUMINA | ss3640932840 | Oct 12, 2018 (152) |
120 | ILLUMINA | ss3643753622 | Oct 12, 2018 (152) |
121 | ILLUMINA | ss3644998206 | Oct 12, 2018 (152) |
122 | OMUKHERJEE_ADBS | ss3646396019 | Oct 12, 2018 (152) |
123 | ILLUMINA | ss3653504807 | Oct 12, 2018 (152) |
124 | ILLUMINA | ss3654233853 | Oct 12, 2018 (152) |
125 | EGCUT_WGS | ss3672911912 | Jul 13, 2019 (153) |
126 | EVA_DECODE | ss3724488404 | Jul 13, 2019 (153) |
127 | ILLUMINA | ss3726631129 | Jul 13, 2019 (153) |
128 | ACPOP | ss3736759490 | Jul 13, 2019 (153) |
129 | ILLUMINA | ss3744323386 | Jul 13, 2019 (153) |
130 | ILLUMINA | ss3745525471 | Jul 13, 2019 (153) |
131 | EVA | ss3769523935 | Jul 13, 2019 (153) |
132 | ILLUMINA | ss3773017374 | Jul 13, 2019 (153) |
133 | PACBIO | ss3786487611 | Jul 13, 2019 (153) |
134 | PACBIO | ss3791692774 | Jul 13, 2019 (153) |
135 | PACBIO | ss3796574252 | Jul 13, 2019 (153) |
136 | KHV_HUMAN_GENOMES | ss3812692033 | Jul 13, 2019 (153) |
137 | EVA | ss3824450963 | Apr 26, 2020 (154) |
138 | EVA | ss3825525922 | Apr 26, 2020 (154) |
139 | EVA | ss3825759534 | Apr 26, 2020 (154) |
140 | EVA | ss3831791319 | Apr 26, 2020 (154) |
141 | EVA | ss3839424112 | Apr 26, 2020 (154) |
142 | EVA | ss3844888272 | Apr 26, 2020 (154) |
143 | HGDP | ss3847957486 | Apr 26, 2020 (154) |
144 | SGDP_PRJ | ss3872795552 | Apr 26, 2020 (154) |
145 | KRGDB | ss3920637378 | Apr 26, 2020 (154) |
146 | KOGIC | ss3966475200 | Apr 26, 2020 (154) |
147 | FSA-LAB | ss3984424791 | Apr 26, 2021 (155) |
148 | FSA-LAB | ss3984424792 | Apr 26, 2021 (155) |
149 | EVA | ss3984623686 | Apr 26, 2021 (155) |
150 | EVA | ss3985435836 | Apr 26, 2021 (155) |
151 | EVA | ss3986455851 | Apr 26, 2021 (155) |
152 | EVA | ss4017451344 | Apr 26, 2021 (155) |
153 | TOPMED | ss4830986480 | Apr 26, 2021 (155) |
154 | TOMMO_GENOMICS | ss5194693173 | Apr 26, 2021 (155) |
155 | EVA | ss5237050637 | Apr 26, 2021 (155) |
156 | EVA | ss5237205184 | Apr 26, 2021 (155) |
157 | EVA | ss5237653481 | Oct 13, 2022 (156) |
158 | 1000G_HIGH_COVERAGE | ss5281716261 | Oct 13, 2022 (156) |
159 | TRAN_CS_UWATERLOO | ss5314426141 | Oct 13, 2022 (156) |
160 | EVA | ss5315421937 | Oct 13, 2022 (156) |
161 | EVA | ss5389400411 | Oct 13, 2022 (156) |
162 | HUGCELL_USP | ss5477626336 | Oct 13, 2022 (156) |
163 | EVA | ss5509804465 | Oct 13, 2022 (156) |
164 | 1000G_HIGH_COVERAGE | ss5574545696 | Oct 13, 2022 (156) |
165 | EVA | ss5624186308 | Oct 13, 2022 (156) |
166 | SANFORD_IMAGENETICS | ss5624726376 | Oct 13, 2022 (156) |
167 | SANFORD_IMAGENETICS | ss5648003796 | Oct 13, 2022 (156) |
168 | TOMMO_GENOMICS | ss5739045543 | Oct 13, 2022 (156) |
169 | EVA | ss5799792084 | Oct 13, 2022 (156) |
170 | EVA | ss5800060509 | Oct 13, 2022 (156) |
171 | YY_MCH | ss5810888941 | Oct 13, 2022 (156) |
172 | EVA | ss5829564879 | Oct 13, 2022 (156) |
173 | EVA | ss5847360580 | Oct 13, 2022 (156) |
174 | EVA | ss5848214282 | Oct 13, 2022 (156) |
175 | EVA | ss5848726973 | Oct 13, 2022 (156) |
176 | EVA | ss5856879549 | Oct 13, 2022 (156) |
177 | EVA | ss5917488258 | Oct 13, 2022 (156) |
178 | EVA | ss5977198755 | Oct 13, 2022 (156) |
179 | EVA | ss5979901449 | Oct 13, 2022 (156) |
180 | EVA | ss5981255578 | Oct 13, 2022 (156) |
181 | 1000Genomes | NC_000009.11 - 107620867 | Oct 12, 2018 (152) |
182 | 1000Genomes_30x | NC_000009.12 - 104858586 | Oct 13, 2022 (156) |
183 | The Avon Longitudinal Study of Parents and Children | NC_000009.11 - 107620867 | Oct 12, 2018 (152) |
184 | Genetic variation in the Estonian population | NC_000009.11 - 107620867 | Oct 12, 2018 (152) |
185 | ExAC | NC_000009.11 - 107620867 | Oct 12, 2018 (152) |
186 | FINRISK | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
187 | The Danish reference pan genome | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
188 | gnomAD - Genomes | NC_000009.12 - 104858586 | Apr 26, 2021 (155) |
189 | gnomAD - Exomes | NC_000009.11 - 107620867 | Jul 13, 2019 (153) |
190 | Genome of the Netherlands Release 5 | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
191 | HGDP-CEPH-db Supplement 1 | NC_000009.10 - 106660688 | Apr 26, 2020 (154) |
192 | HapMap | NC_000009.12 - 104858586 | Apr 26, 2020 (154) |
193 | KOREAN population from KRGDB | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
194 | Korean Genome Project | NC_000009.12 - 104858586 | Apr 26, 2020 (154) |
195 | Medical Genome Project healthy controls from Spanish population | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
196 | Northern Sweden | NC_000009.11 - 107620867 | Jul 13, 2019 (153) |
197 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000009.11 - 107620867 | Apr 26, 2021 (155) |
198 | CNV burdens in cranial meningiomas | NC_000009.11 - 107620867 | Apr 26, 2021 (155) |
199 | Qatari | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
200 | SGDP_PRJ | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
201 | Siberian | NC_000009.11 - 107620867 | Apr 26, 2020 (154) |
202 | 8.3KJPN | NC_000009.11 - 107620867 | Apr 26, 2021 (155) |
203 | 14KJPN | NC_000009.12 - 104858586 | Oct 13, 2022 (156) |
204 | TopMed | NC_000009.12 - 104858586 | Apr 26, 2021 (155) |
205 | UK 10K study - Twins | NC_000009.11 - 107620867 | Oct 12, 2018 (152) |
206 | A Vietnamese Genetic Variation Database | NC_000009.11 - 107620867 | Jul 13, 2019 (153) |
207 | ALFA | NC_000009.12 - 104858586 | Apr 26, 2021 (155) |
208 | ClinVar | RCV000010114.7 | Apr 26, 2020 (154) |
209 | ClinVar | RCV000310562.3 | Oct 13, 2022 (156) |
210 | ClinVar | RCV000367106.5 | Oct 13, 2022 (156) |
211 | ClinVar | RCV001512056.5 | Oct 13, 2022 (156) |
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) |
---|---|
rs2234884 | May 29, 2002 (105) |
rs2853572 | Jan 04, 2002 (102) |
rs52801000 | Sep 21, 2007 (128) |
rs61696010 | May 27, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
27814772, ss3920637378 | NC_000009.11:107620866:C:G | NC_000009.12:104858585:C:G | (self) |
ss78067773, ss84377835, ss3639419169, ss3639743042 | NC_000009.9:104700421:C:T | NC_000009.12:104858585:C:T | (self) |
635378, ss108969840, ss114871255, ss115776822, ss164592760, ss165610295, ss200716253, ss254451140, ss280347982, ss294344365, ss480472823, ss491940424, ss825452289, ss1596476185, ss1713129282, ss2635197761, ss3643753622, ss3847957486 | NC_000009.10:106660687:C:T | NC_000009.12:104858585:C:T | (self) |
47224608, 26231879, 18650160, 9722476, 60097, 9369438, 6955437, 11708531, 27814772, 348009, 10044355, 661763, 173136, 12196665, 24812532, 6540958, 52662480, 26231879, 5828447, ss224382337, ss234918476, ss241675666, ss342279560, ss480487159, ss481284970, ss485033889, ss490982234, ss491425866, ss537057790, ss561546673, ss656043960, ss779058581, ss782963190, ss783925206, ss832219430, ss832881990, ss834521702, ss974471669, ss986839517, ss1067505732, ss1076504987, ss1334925698, ss1431920139, ss1583204501, ss1584063636, ss1623275185, ss1666269218, ss1689591100, ss1711232249, ss1752751632, ss1806101580, ss1930154735, ss1946264882, ss1959203296, ss1971276814, ss2025795921, ss2154024604, ss2627366404, ss2634898724, ss2634898725, ss2709900459, ss2711168363, ss2737769414, ss2748236934, ss2881712918, ss2985468927, ss3005375187, ss3022951140, ss3023064788, ss3348797065, ss3625988526, ss3630323277, ss3632789124, ss3633542948, ss3634271633, ss3635225550, ss3635949419, ss3636973963, ss3637702767, ss3638827748, ss3640932840, ss3644998206, ss3646396019, ss3653504807, ss3654233853, ss3672911912, ss3736759490, ss3744323386, ss3745525471, ss3769523935, ss3773017374, ss3786487611, ss3791692774, ss3796574252, ss3824450963, ss3825525922, ss3825759534, ss3831791319, ss3839424112, ss3872795552, ss3920637378, ss3984424791, ss3984424792, ss3984623686, ss3985435836, ss3986455851, ss4017451344, ss5194693173, ss5315421937, ss5389400411, ss5509804465, ss5624186308, ss5624726376, ss5648003796, ss5799792084, ss5800060509, ss5829564879, ss5847360580, ss5848214282, ss5848726973, ss5977198755, ss5979901449, ss5981255578 | NC_000009.11:107620866:C:T | NC_000009.12:104858585:C:T | (self) |
RCV000010114.7, RCV000310562.3, RCV000367106.5, RCV001512056.5, 62071631, 333820363, 3887415, 22853201, 72882647, 668364041, 6609031229, ss244238744, ss342562846, ss2313325552, ss3026679527, ss3724488404, ss3726631129, ss3812692033, ss3844888272, ss3966475200, ss4830986480, ss5237050637, ss5237205184, ss5237653481, ss5281716261, ss5314426141, ss5477626336, ss5574545696, ss5739045543, ss5810888941, ss5856879549, ss5917488258 | NC_000009.12:104858585:C:T | NC_000009.12:104858585:C:T | (self) |
ss10514830 | NT_008470.15:9447285:C:T | NC_000009.12:104858585:C:T | (self) |
ss15710351, ss20370337 | NT_008470.16:9282394:C:T | NC_000009.12:104858585:C:T | (self) |
ss3188685, ss3488736, ss5603801, ss12675189, ss22886412, ss43782758, ss48413631, ss65824203, ss66644090, ss67235627, ss67631739, ss68377571, ss69298514, ss70713958, ss71281654, ss74806961, ss75538321, ss76877191, ss79121771, ss84002031, ss120037348, ss121957475, ss153888389, ss157829796, ss159370162, ss159718829, ss160517657, ss161683862, ss171105150, ss173194659, ss244288064 | NT_008470.19:36785398:C:T | NC_000009.12:104858585:C:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
11238261 | Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. | Clee SM et al. | 2001 | Circulation |
12600718 | ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease. | Wollmer MA et al. | 2003 | Neurobiology of aging |
12624133 | A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. | Cenarro A et al. | 2003 | Journal of medical genetics |
16372134 | Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels. | Katzov H et al. | 2006 | Journal of human genetics |
16429166 | Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. | Brunham LR et al. | 2005 | PLoS genetics |
16725228 | Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease. | Sundar PD et al. | 2007 | Neurobiology of aging |
17324514 | ABCA1 polymorphisms and Alzheimer's disease. | Wavrant-De Vrièze F et al. | 2007 | Neuroscience letters |
17430597 | Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms. | Wahrle SE et al. | 2007 | Molecular neurodegeneration |
17553166 | The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile. | Pasdar A et al. | 2007 | BMC medical genetics |
18974877 | Modifier effects between regulatory and protein-coding variation. | Dimas AS et al. | 2008 | PLoS genetics |
19041386 | Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. | Boes E et al. | 2009 | Experimental gerontology |
19489872 | Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women. | Lamon-Fava S et al. | 2010 | Clinical endocrinology |
19606474 | A survey of ABCA1 sequence variation confirms association with dementia. | Reynolds CA et al. | 2009 | Human mutation |
19692220 | The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study. | Junyent M et al. | 2010 | Nutrition, metabolism, and cardiovascular diseases |
20167577 | Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. | Reynolds CA et al. | 2010 | Human molecular genetics |
20170916 | Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study. | Abellán R et al. | 2010 | Atherosclerosis |
20185793 | ABCA1 gene variants regulate postprandial lipid metabolism in healthy men. | Delgado-Lista J et al. | 2010 | Arteriosclerosis, thrombosis, and vascular biology |
20188211 | The role of ATP-binding cassette transporter A1 in Alzheimer's disease and neurodegeneration. | Koldamova R et al. | 2010 | Biochimica et biophysica acta |
20346718 | Effect of fenofibrate therapy and ABCA1 polymorphisms on high-density lipoprotein subclasses in the Genetics of Lipid Lowering Drugs and Diet Network. | Tsai MY et al. | 2010 | Molecular genetics and metabolism |
20797885 | Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects. | Guevara-Cruz M et al. | 2010 | Molecular genetics and metabolism |
21310416 | Associations of the ATP-binding cassette transporter A1 R219K polymorphism with HDL-C level and coronary artery disease risk: a meta-analysis. | Ma XY et al. | 2011 | Atherosclerosis |
22403555 | A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration. | Piehler AP et al. | 2012 | Frontiers in psychiatry |
22668585 | Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses. | Kolovou V et al. | 2012 | Lipids in health and disease |
22768049 | Evolutionary responses to a constructed niche: ancient Mesoamericans as a model of gene-culture coevolution. | Hünemeier T et al. | 2012 | PloS one |
22833659 | Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. | Clifford AJ et al. | 2012 | The Journal of nutrition |
22911757 | Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population. | Liu X et al. | 2012 | PloS one |
23021345 | Gene-diet interactions on plasma lipid levels in the Inuit population. | Rudkowska I et al. | 2013 | The British journal of nutrition |
23039238 | Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels. | Yin RX et al. | 2012 | Cardiovascular diabetology |
23111454 | Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease. | Wang XF et al. | 2013 | Molecular biology reports |
23372063 | Genetic determination of plasma cholesterol efflux capacity is gender-specific and independent of HDL-cholesterol levels. | Villard EF et al. | 2013 | Arteriosclerosis, thrombosis, and vascular biology |
23497168 | Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. | Rudkowska I et al. | 2013 | Nutrition & metabolism |
23533563 | Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study. | Bérard AM et al. | 2013 | PloS one |
23656756 | Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. | Clifford AJ et al. | 2013 | Lipids in health and disease |
24854628 | ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment. | Akao H et al. | 2014 | Atherosclerosis |
25361584 | Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population. | Frikke-Schmidt R et al. | 2015 | International journal of epidemiology |
26243156 | Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents. | Fawzy MS et al. | 2015 | Molecular diagnosis & therapy |
26451383 | Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians. | Haghvirdizadeh P et al. | 2015 | Journal of diabetes research |
26774504 | Correlation Between ABCA1 Gene Polymorphism and aopA-I and HDL-C in Abdominal Aortic Aneurysm. | Zhao L et al. | 2016 | Medical science monitor |
26828509 | Interactions of Six SNPs in ABCA1gene and Obesity in Low HDL-C Disease in Kazakh of China. | Yao MH et al. | 2016 | International journal of environmental research and public health |
26839654 | Genetics of coronary artery disease and myocardial infarction. | Dai X et al. | 2016 | World journal of cardiology |
26891315 | Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China. | Yao MH et al. | 2016 | International journal of environmental research and public health |
26936456 | The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians. | Cyrus C et al. | 2016 | Human genomics |
26985771 | Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease. | Bai F et al. | 2016 | Oncotarget |
27560308 | Evaluation of Adenosine Triphosphate-Binding Cassette Transporter A1 (ABCA1) R219K and C-Reactive Protein Gene (CRP) +1059G/C Gene Polymorphisms in Susceptibility to Coronary Heart Disease. | Li JF et al. | 2016 | Medical science monitor |
28865324 | The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis. | Au A et al. | 2017 | Atherosclerosis |
29133174 | ABCA1 rs2230805 and rs2230806 common gene variants are associated with Alzheimer's disease. | Fehér Á et al. | 2018 | Neuroscience letters |
29531587 | Association Study of the ATP - Binding Cassette Transporter A1 (ABCA1) Rs2230806 Genetic Variation with Lipid Profile and Coronary Artery Disease Risk in an Iranian Population. | Ghaznavi H et al. | 2018 | Open access Macedonian journal of medical sciences |
29605487 | Association between ABCA1 gene polymorphisms and the therapeutic response to donepezil therapy in Han Chinese patients with Alzheimer's disease. | Lu J et al. | 2018 | Brain research bulletin |
29621814 | A Meta-Analysis of the Associations Between the ATP-Binding Cassette Transporter ABCA1 R219K (rs2230806) Polymorphism and the Risk of Type 2 Diabetes in Asians. | Jung D et al. | 2018 | Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme |
29879747 | Correction: A Meta-Analysis of the Associations Between the ATP-Binding Cassette Transporter ABCA1 R219K (rs2230806) Polymorphism and the Risk of Type 2 Diabetes in Asians. | Jung D et al. | 2018 | Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme |
30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
30558007 | Associations of the ABCA1 gene polymorphisms with plasma lipid levels: A meta-analysis. | Lu Z et al. | 2018 | Medicine |
30584432 | Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study. | Daneshpour MS et al. | 2018 | International journal of endocrinology and metabolism |
30720955 | [The effect of ABCA1 rs2230806 common gene variant on plasma lipid levels in patients with dyslipidemia.]. | Smirnov GP et al. | 2018 | Klinicheskaia laboratornaia diagnostika |
31006134 | ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease. | Wang F et al. | 2019 | Journal of clinical laboratory analysis |
31150543 | Association of ABCA1 Haplotypes with Coronary Artery Disease. | Fouladseresht H et al. | 2020 | Laboratory medicine |
31806882 | Genetic contribution to lipid target achievement with statin therapy: a prospective study. | Ruiz-Iruela C et al. | 2020 | The pharmacogenomics journal |
31911446 | Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease. | Lu Z et al. | 2020 | Postgraduate medical journal |
31943326 | Common gene polymorphism in ATP-binding cassette transporter A1 and coronary artery disease: A genetic association study and a structural analysis. | Karimian M et al. | 2020 | Journal of cellular biochemistry |
31977856 | Association of rs2230806 in ABCA1 with coronary artery disease: An updated meta-analysis based on 43 research studies. | Fan Q et al. | 2020 | Medicine |
31982877 | ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes. | Du W et al. | 2020 | Public health genomics |
32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
32447570 | Association of genetic variants of ABCA1 with susceptibility to dementia: (SADEM study). | Teresa JC et al. | 2020 | Metabolic brain disease |
32745159 | Is it possible ABC transporters genetic variants influence the outcomes of a weight-loss diet in obese women? | Teixeira MD et al. | 2020 | Genetics and molecular biology |
33426085 | Association between LXR-α and ABCA1 Gene Polymorphisms and the Risk of Diabetic Kidney Disease in Patients with Type 2 Diabetes Mellitus in a Chinese Han Population. | Liu P et al. | 2020 | Journal of diabetes research |
33450693 | Novel associations of SNPs MYLIP rs3757354 and ABCA1 2230806 gene with early-onset-preeclampsia: A case-control candidate genetic study. | Wang H et al. | 2021 | Pregnancy hypertension |
33926499 | Protective genes and pathways in Alzheimer's disease: moving towards precision interventions. | Seto M et al. | 2021 | Molecular neurodegeneration |
34131278 | Genetic polymorphisms associated with obesity in the Arab world: a systematic review. | Younes S et al. | 2021 | International journal of obesity (2005) |
34336004 | Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity. | Bogari NM et al. | 2021 | Disease markers |
34975757 | A Common R219K Variant of ATP-Binding Cassette Transporter A1 Gene Alters Atherometabolic Traits in Pregnant Women With Gestational Diabetes Mellitus. | Tang F et al. | 2021 | Frontiers in endocrinology |
35069435 | Genetic Variants and Their Associations to Type 2 Diabetes Mellitus Complications in the United Arab Emirates. | ElHajj Chehadeh S et al. | 2021 | Frontiers in endocrinology |
35387194 | Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review. | Pérez-Beltrán YE et al. | 2022 | Frontiers in nutrition |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.