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.
rs8176719
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:133257521-133257522 (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
- insC
- Variation Type
- Insertion
- Frequency
-
insC=0.333337 (88231/264690, TOPMED)insC=0.367808 (91421/248556, GnomAD_exome)insC=0.350821 (49009/139698, GnomAD) (+ 15 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ABO : Coding Sequence Variant
- Publications
- 59 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 | 30180 | =0.63748 | C=0.36252 |
European | Sub | 20264 | =0.62081 | C=0.37919 |
African | Sub | 6052 | =0.6902 | C=0.3098 |
African Others | Sub | 198 | =0.707 | C=0.293 |
African American | Sub | 5854 | =0.6896 | C=0.3104 |
Asian | Sub | 168 | =0.673 | C=0.327 |
East Asian | Sub | 112 | =0.643 | C=0.357 |
Other Asian | Sub | 56 | =0.73 | C=0.27 |
Latin American 1 | Sub | 146 | =0.658 | C=0.342 |
Latin American 2 | Sub | 610 | =0.734 | C=0.266 |
South Asian | Sub | 98 | =0.53 | C=0.47 |
Other | Sub | 2842 | =0.6239 | C=0.3761 |
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 |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 |
-
No frequency provided |
insC=0.333337 |
gnomAD - Exomes | Global | Study-wide | 248556 |
-
No frequency provided |
insC=0.367808 |
gnomAD - Exomes | European | Sub | 134106 |
-
No frequency provided |
insC=0.388185 |
gnomAD - Exomes | Asian | Sub | 48484 |
-
No frequency provided |
insC=0.42527 |
gnomAD - Exomes | American | Sub | 34442 |
-
No frequency provided |
insC=0.21596 |
gnomAD - Exomes | African | Sub | 15440 |
-
No frequency provided |
insC=0.31043 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10052 |
-
No frequency provided |
insC=0.42996 |
gnomAD - Exomes | Other | Sub | 6032 |
-
No frequency provided |
insC=0.3632 |
gnomAD - Genomes | Global | Study-wide | 139698 |
-
No frequency provided |
insC=0.350821 |
gnomAD - Genomes | European | Sub | 75756 |
-
No frequency provided |
insC=0.38485 |
gnomAD - Genomes | African | Sub | 41728 |
-
No frequency provided |
insC=0.30363 |
gnomAD - Genomes | American | Sub | 13630 |
-
No frequency provided |
insC=0.28584 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 |
-
No frequency provided |
insC=0.4220 |
gnomAD - Genomes | East Asian | Sub | 3118 |
-
No frequency provided |
insC=0.3765 |
gnomAD - Genomes | Other | Sub | 2146 |
-
No frequency provided |
insC=0.3322 |
ExAC | Global | Study-wide | 119922 |
-
No frequency provided |
insC=0.376436 |
ExAC | Europe | Sub | 72888 |
-
No frequency provided |
insC=0.39257 |
ExAC | Asian | Sub | 24998 |
-
No frequency provided |
insC=0.42927 |
ExAC | American | Sub | 11450 |
-
No frequency provided |
insC=0.21240 |
ExAC | African | Sub | 9692 |
-
No frequency provided |
insC=0.3096 |
ExAC | Other | Sub | 894 |
-
No frequency provided |
insC=0.408 |
The PAGE Study | Global | Study-wide | 78186 |
-
No frequency provided |
insC=0.30857 |
The PAGE Study | AfricanAmerican | Sub | 32208 |
-
No frequency provided |
insC=0.30045 |
The PAGE Study | Mexican | Sub | 10796 |
-
No frequency provided |
insC=0.24555 |
The PAGE Study | Asian | Sub | 8222 |
-
No frequency provided |
insC=0.4354 |
The PAGE Study | PuertoRican | Sub | 7896 |
-
No frequency provided |
insC=0.2926 |
The PAGE Study | NativeHawaiian | Sub | 4506 |
-
No frequency provided |
insC=0.3726 |
The PAGE Study | Cuban | Sub | 4224 |
-
No frequency provided |
insC=0.3390 |
The PAGE Study | Dominican | Sub | 3816 |
-
No frequency provided |
insC=0.2814 |
The PAGE Study | CentralAmerican | Sub | 2442 |
-
No frequency provided |
insC=0.2305 |
The PAGE Study | SouthAmerican | Sub | 1978 |
-
No frequency provided |
insC=0.2346 |
The PAGE Study | NativeAmerican | Sub | 1254 |
-
No frequency provided |
insC=0.2656 |
The PAGE Study | SouthAsian | Sub | 844 |
-
No frequency provided |
insC=0.430 |
Allele Frequency Aggregator | Total | Global | 30180 |
-
No frequency provided |
insC=0.36252 |
Allele Frequency Aggregator | European | Sub | 20264 |
-
No frequency provided |
insC=0.37919 |
Allele Frequency Aggregator | African | Sub | 6052 |
-
No frequency provided |
insC=0.3098 |
Allele Frequency Aggregator | Other | Sub | 2842 |
-
No frequency provided |
insC=0.3761 |
Allele Frequency Aggregator | Latin American 2 | Sub | 610 |
-
No frequency provided |
insC=0.266 |
Allele Frequency Aggregator | Asian | Sub | 168 |
-
No frequency provided |
insC=0.327 |
Allele Frequency Aggregator | Latin American 1 | Sub | 146 |
-
No frequency provided |
insC=0.342 |
Allele Frequency Aggregator | South Asian | Sub | 98 |
-
No frequency provided |
insC=0.47 |
14KJPN | JAPANESE | Study-wide | 28258 |
-
No frequency provided |
insC=0.43666 |
8.3KJPN | JAPANESE | Study-wide | 16760 |
-
No frequency provided |
insC=0.43878 |
GO Exome Sequencing Project | Global | Study-wide | 12218 |
-
No frequency provided |
insC=0.33999 |
GO Exome Sequencing Project | European American | Sub | 8112 |
-
No frequency provided |
insC=0.3569 |
GO Exome Sequencing Project | African American | Sub | 4106 |
-
No frequency provided |
insC=0.3066 |
1000Genomes_30x | Global | Study-wide | 6404 |
-
No frequency provided |
insC=0.3445 |
1000Genomes_30x | African | Sub | 1786 |
-
No frequency provided |
insC=0.2968 |
1000Genomes_30x | Europe | Sub | 1266 |
-
No frequency provided |
insC=0.3934 |
1000Genomes_30x | South Asian | Sub | 1202 |
-
No frequency provided |
insC=0.4101 |
1000Genomes_30x | East Asian | Sub | 1170 |
-
No frequency provided |
insC=0.3880 |
1000Genomes_30x | American | Sub | 980 |
-
No frequency provided |
insC=0.236 |
1000Genomes | Global | Study-wide | 5008 |
-
No frequency provided |
insC=0.3438 |
1000Genomes | African | Sub | 1322 |
-
No frequency provided |
insC=0.2943 |
1000Genomes | East Asian | Sub | 1008 |
-
No frequency provided |
insC=0.3800 |
1000Genomes | Europe | Sub | 1006 |
-
No frequency provided |
insC=0.3946 |
1000Genomes | South Asian | Sub | 978 |
-
No frequency provided |
insC=0.401 |
1000Genomes | American | Sub | 694 |
-
No frequency provided |
insC=0.232 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 |
-
No frequency provided |
insC=0.4391 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 |
-
No frequency provided |
insC=0.3495 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 |
-
No frequency provided |
insC=0.3430 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 |
-
No frequency provided |
insC=0.361 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 607 |
-
No frequency provided |
insC=0.344 |
Northern Sweden | ACPOP | Study-wide | 600 |
-
No frequency provided |
insC=0.393 |
The Danish reference pan genome | Danish | Study-wide | 40 |
-
No frequency provided |
insC=0.47 |
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.133257521_133257522insC |
GRCh37.p13 chr 9 | NC_000009.11:g.136132908_136132909insC |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ABO transcript variant A1.01 | NM_020469.3:c. | N/A | Coding Sequence 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.
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 | = | insC |
---|---|---|
GRCh38.p14 chr 9 | NC_000009.12:g.133257521_133257522= | NC_000009.12:g.133257521_133257522insC |
GRCh37.p13 chr 9 | NC_000009.11:g.136132908_136132909= | NC_000009.11:g.136132908_136132909insC |
histo-blood group ABO system transferase isoform A1.01 | not_yet_implemented | not_yet_implemented |
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 | PGA-UW-FHCRC | ss8486989 | Aug 27, 2003 (117) |
2 | GMI | ss288988789 | May 04, 2012 (137) |
3 | 1000GENOMES | ss327194826 | Aug 21, 2014 (142) |
4 | 1000GENOMES | ss327270043 | Aug 21, 2014 (142) |
5 | 1000GENOMES | ss327640782 | Aug 21, 2014 (142) |
6 | 1000GENOMES | ss499103127 | May 04, 2012 (137) |
7 | LUNTER | ss551986558 | Apr 25, 2013 (138) |
8 | LUNTER | ss552222704 | Apr 25, 2013 (138) |
9 | LUNTER | ss553395025 | Apr 25, 2013 (138) |
10 | TISHKOFF | ss560773063 | Apr 25, 2013 (138) |
11 | SSMP | ss663904877 | Apr 09, 2015 (144) |
12 | EVA-GONL | ss987051865 | Aug 21, 2014 (142) |
13 | 1000GENOMES | ss1368887144 | Aug 21, 2014 (142) |
14 | DDI | ss1536637082 | Apr 09, 2015 (144) |
15 | EVA_GENOME_DK | ss1577478370 | Apr 09, 2015 (144) |
16 | EVA_DECODE | ss1596698463 | Apr 01, 2015 (144) |
17 | EVA_UK10K_ALSPAC | ss1706587437 | Apr 09, 2015 (144) |
18 | EVA_UK10K_TWINSUK | ss1706587525 | Apr 09, 2015 (144) |
19 | EVA_EXAC | ss1711924897 | Apr 09, 2015 (144) |
20 | HAMMER_LAB | ss1806192113 | Sep 08, 2015 (146) |
21 | ILLUMINA | ss1946271489 | Dec 20, 2016 (150) |
22 | JJLAB | ss2030992829 | Sep 14, 2016 (149) |
23 | ILLUMINA | ss2136306403 | Dec 20, 2016 (150) |
24 | SYSTEMSBIOZJU | ss2627421499 | Nov 08, 2017 (151) |
25 | ILLUMINA | ss2711175028 | Nov 08, 2017 (151) |
26 | GNOMAD | ss2737968154 | Nov 08, 2017 (151) |
27 | GNOMAD | ss2748297897 | Nov 08, 2017 (151) |
28 | GNOMAD | ss2884018381 | Nov 08, 2017 (151) |
29 | AFFY | ss2986122596 | Nov 08, 2017 (151) |
30 | SWEGEN | ss3005708106 | Nov 08, 2017 (151) |
31 | ILLUMINA | ss3022973156 | Nov 08, 2017 (151) |
32 | MCHAISSO | ss3064355887 | Nov 08, 2017 (151) |
33 | MCHAISSO | ss3065248840 | Nov 08, 2017 (151) |
34 | ILLUMINA | ss3625993650 | Oct 12, 2018 (152) |
35 | BEROUKHIMLAB | ss3644289824 | Oct 12, 2018 (152) |
36 | ILLUMINA | ss3645004824 | Oct 12, 2018 (152) |
37 | BIOINF_KMB_FNS_UNIBA | ss3646176024 | Oct 12, 2018 (152) |
38 | URBANLAB | ss3649254260 | Oct 12, 2018 (152) |
39 | ILLUMINA | ss3653529675 | Oct 12, 2018 (152) |
40 | EGCUT_WGS | ss3673246682 | Jul 13, 2019 (153) |
41 | EVA_DECODE | ss3724896254 | Jul 13, 2019 (153) |
42 | ILLUMINA | ss3726650388 | Jul 13, 2019 (153) |
43 | ACPOP | ss3736936000 | Jul 13, 2019 (153) |
44 | ILLUMINA | ss3744326490 | Jul 13, 2019 (153) |
45 | PAGE_CC | ss3771530898 | Jul 13, 2019 (153) |
46 | KHV_HUMAN_GENOMES | ss3812939055 | Jul 13, 2019 (153) |
47 | EVA | ss3824479454 | Apr 26, 2020 (154) |
48 | EVA | ss3831894765 | Apr 26, 2020 (154) |
49 | EVA | ss3839476245 | Apr 26, 2020 (154) |
50 | EVA | ss3844941627 | Apr 26, 2020 (154) |
51 | FSA-LAB | ss3984433183 | Apr 26, 2021 (155) |
52 | FSA-LAB | ss3984433184 | Apr 26, 2021 (155) |
53 | EVA | ss3986048486 | Apr 26, 2021 (155) |
54 | EVA | ss3986466948 | Apr 26, 2021 (155) |
55 | TOPMED | ss4838097945 | Apr 26, 2021 (155) |
56 | TOMMO_GENOMICS | ss5195631742 | Apr 26, 2021 (155) |
57 | EVA | ss5237053384 | Apr 26, 2021 (155) |
58 | EVA | ss5237654028 | Oct 13, 2022 (156) |
59 | 1000G_HIGH_COVERAGE | ss5282430109 | Oct 13, 2022 (156) |
60 | TRAN_CS_UWATERLOO | ss5314426986 | Oct 13, 2022 (156) |
61 | HUGCELL_USP | ss5478271759 | Oct 13, 2022 (156) |
62 | EVA | ss5509868682 | Oct 13, 2022 (156) |
63 | 1000G_HIGH_COVERAGE | ss5575607222 | Oct 13, 2022 (156) |
64 | EVA | ss5624189074 | Oct 13, 2022 (156) |
65 | SANFORD_IMAGENETICS | ss5624732332 | Oct 13, 2022 (156) |
66 | SANFORD_IMAGENETICS | ss5648401777 | Oct 13, 2022 (156) |
67 | TOMMO_GENOMICS | ss5740272358 | Oct 13, 2022 (156) |
68 | EVA | ss5800060906 | Oct 13, 2022 (156) |
69 | YY_MCH | ss5811067327 | Oct 13, 2022 (156) |
70 | EVA | ss5829845935 | Oct 13, 2022 (156) |
71 | EVA | ss5848733876 | Oct 13, 2022 (156) |
72 | EVA | ss5856964723 | Oct 13, 2022 (156) |
73 | EVA | ss5918311609 | Oct 13, 2022 (156) |
74 | EVA | ss5977616573 | Oct 13, 2022 (156) |
75 | EVA | ss5981257436 | Oct 13, 2022 (156) |
76 | 1000Genomes | NC_000009.11 - 136132909 | Oct 12, 2018 (152) |
77 | 1000Genomes_30x | NC_000009.12 - 133257522 | Oct 13, 2022 (156) |
78 | The Avon Longitudinal Study of Parents and Children | NC_000009.11 - 136132909 | Oct 12, 2018 (152) |
79 | Genetic variation in the Estonian population | NC_000009.11 - 136132909 | Oct 12, 2018 (152) |
80 | ExAC | NC_000009.11 - 136132909 | Oct 12, 2018 (152) |
81 | The Danish reference pan genome | NC_000009.11 - 136132909 | Apr 26, 2020 (154) |
82 | gnomAD - Genomes | NC_000009.12 - 133257522 | Apr 26, 2021 (155) |
83 | gnomAD - Exomes | NC_000009.11 - 136132909 | Jul 13, 2019 (153) |
84 | GO Exome Sequencing Project | NC_000009.11 - 136132909 | Oct 12, 2018 (152) |
85 | Genome of the Netherlands Release 5 | NC_000009.11 - 136132909 | Apr 26, 2020 (154) |
86 | Northern Sweden | NC_000009.11 - 136132909 | Jul 13, 2019 (153) |
87 | The PAGE Study | NC_000009.12 - 133257522 | Jul 13, 2019 (153) |
88 | 8.3KJPN | NC_000009.11 - 136132909 | Apr 26, 2021 (155) |
89 | 14KJPN | NC_000009.12 - 133257522 | Oct 13, 2022 (156) |
90 | TopMed | NC_000009.12 - 133257522 | Apr 26, 2021 (155) |
91 | UK 10K study - Twins | NC_000009.11 - 136132909 | Oct 12, 2018 (152) |
92 | A Vietnamese Genetic Variation Database | NC_000009.11 - 136132909 | Jul 13, 2019 (153) |
93 | ALFA | NC_000009.12 - 133257522 | Apr 26, 2021 (155) |
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).
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss288988789, ss327194826, ss327270043, ss327640782, ss551986558, ss552222704, ss553395025, ss1596698463 | NC_000009.10:135122729::C | NC_000009.12:133257521::C | (self) |
48065178, 26714592, 18984930, 9860480, 1306032, 7158093, 937189, 11914060, 10220865, 53601049, 26714592, 5929352, ss499103127, ss560773063, ss663904877, ss987051865, ss1368887144, ss1536637082, ss1577478370, ss1706587437, ss1706587525, ss1711924897, ss1806192113, ss1946271489, ss2030992829, ss2136306403, ss2627421499, ss2711175028, ss2737968154, ss2748297897, ss2884018381, ss2986122596, ss3005708106, ss3022973156, ss3625993650, ss3644289824, ss3645004824, ss3653529675, ss3673246682, ss3736936000, ss3744326490, ss3824479454, ss3831894765, ss3839476245, ss3984433183, ss3984433184, ss3986048486, ss3986466948, ss5195631742, ss5509868682, ss5624189074, ss5624732332, ss5648401777, ss5800060906, ss5829845935, ss5848733876, ss5977616573, ss5981257436 | NC_000009.11:136132908::C | NC_000009.12:133257521::C | (self) |
63133157, 339698846, 752367, 74109462, 675475506, 2895766884, ss3064355887, ss3065248840, ss3646176024, ss3649254260, ss3724896254, ss3726650388, ss3771530898, ss3812939055, ss3844941627, ss4838097945, ss5237053384, ss5237654028, ss5282430109, ss5314426986, ss5478271759, ss5575607222, ss5740272358, ss5811067327, ss5856964723, ss5918311609 | NC_000009.12:133257521::C | NC_000009.12:133257521::C | (self) |
ss8486989 | NT_035014.4:2909848::C | NC_000009.12:133257521::C | (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 |
---|---|---|---|---|
18464913 | A genome-wide association study identifies protein quantitative trait loci (pQTLs). | Melzer D et al. | 2008 | PLoS genetics |
19169360 | Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. | Taylor-Cousar JL et al. | 2009 | PloS one |
19465909 | Genome-wide and fine-resolution association analysis of malaria in West Africa. | Jallow M et al. | 2009 | Nature genetics |
19729612 | Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. | Paterson AD et al. | 2009 | Arteriosclerosis, thrombosis, and vascular biology |
21257350 | DNA-based methods in the immunohematology reference laboratory. | Reid ME et al. | 2011 | Transfusion and apheresis science |
21306478 | ABO blood group alleles and the risk of pancreatic cancer in a Japanese population. | Nakao M et al. | 2011 | Cancer science |
21463476 | Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innate immunity pathways as risk factors for venous thromboembolism. | Heit JA et al. | 2011 | Journal of thrombosis and haemostasis |
21680535 | ABO genotype and the risk of gastric cancer, atrophic gastritis, and Helicobacter pylori infection. | Nakao M et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
21929748 | Genetic polymorphisms linked to susceptibility to malaria. | Driss A et al. | 2011 | Malaria journal |
21931645 | An exhaustive, non-euclidean, non-parametric data mining tool for unraveling the complexity of biological systems--novel insights into malaria. | Loucoubar C et al. | 2011 | PloS one |
22438807 | HMOX1 gene promoter alleles and high HO-1 levels are associated with severe malaria in Gambian children. | Walther M et al. | 2012 | PLoS pathogens |
22957039 | Candidate polymorphisms and severe malaria in a Malian population. | Toure O et al. | 2012 | PloS one |
23133757 | ABO Blood Groups and Cardiovascular Diseases. | Zhang H et al. | 2012 | International journal of vascular medicine |
23650146 | A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. | Tang W et al. | 2013 | Genetic epidemiology |
23734777 | Lack of strong effect modification by NFE2L2/CYP3A5/ABO of the risk of venous thrombosis associated with oral hormone therapy. | Blondon M et al. | 2013 | Journal of thrombosis and haemostasis |
24586218 | Pleiotropic effect of common variants at ABO Glycosyltranferase locus in 9q32 on plasma levels of pancreatic lipase and angiotensin converting enzyme. | 2014 | PloS one | |
24934404 | Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study. | Apinjoh TO et al. | 2014 | Malaria journal |
25341889 | Multilocus genetic risk scores for venous thromboembolism risk assessment. | Soria JM et al. | 2014 | Journal of the American Heart Association |
25805752 | USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania. | Manjurano A et al. | 2015 | The Journal of infectious diseases |
25978647 | ABO Blood Type and Personality Traits in Healthy Japanese Subjects. | Tsuchimine S et al. | 2015 | PloS one |
26677855 | Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity. | Fortney K et al. | 2015 | PLoS genetics |
26744416 | Environmental Correlation Analysis for Genes Associated with Protection against Malaria. | Mackinnon MJ et al. | 2016 | Molecular biology and evolution |
26888256 | Novel genetic predictors of venous thromboembolism risk in African Americans. | Hernandez W et al. | 2016 | Blood |
27196462 | Familial Clustering of Gastric Cancer: A Retrospective Study Based on the Number of First-Degree Relatives. | Choi YJ et al. | 2016 | Medicine |
27280446 | Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. | McLachlan S et al. | 2016 | PloS one |
27589963 | Discrepancies between human DNA, mRNA and protein reference sequences and their relation to single nucleotide variants in the human population. | Shirota M et al. | 2016 | Database |
27976734 | The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. | Martin-Fernandez L et al. | 2016 | Scientific reports |
28067620 | Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia. | Clarke GM et al. | 2017 | eLife |
28889200 | Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. | Abdi AA et al. | 2017 | Journal of thrombosis and thrombolysis |
29094466 | Joint effects of prothrombotic genotypes and body height on the risk of venous thromboembolism: the Tromsø study. | Horvei LD et al. | 2018 | Journal of thrombosis and haemostasis |
29190926 | Polymorphism of the ABO gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria. | Long Z et al. | 2017 | Oncotarget |
29290540 | ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia. | Paquette M et al. | 2018 | Journal of clinical lipidology |
29659952 | ABO Genotype Does Not Modify the Association between the "Blood-Type" Diet and Biomarkers of Cardiometabolic Disease in Overweight Adults. | Wang J et al. | 2018 | The Journal of nutrition |
29995659 | Venous thromboembolism risk associated with ABO, F11 and FGG loci. | Manco L et al. | 2018 | Blood coagulation & fibrinolysis |
30029070 | Next-generation DNA sequencing to identify novel genetic risk factors for cerebral vein thrombosis. | Gorski MM et al. | 2018 | Thrombosis research |
30773804 | Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke. The Tromsø Study. | Rinde LB et al. | 2019 | Journal of thrombosis and haemostasis |
31058051 | Recurrent Miscarriage and Implantation Failure of Unknown Cause Studied by a Panel of Thrombophilia Conditions: Increased Frequency of FXIII Val34Leu Polymorphism. | Diaz-Nuñez M et al. | 2019 | Journal of reproduction & infertility |
31124268 | Impact of prothrombotic genotypes on the association between family history of myocardial infarction and venous thromboembolism. | Småbrekke B et al. | 2019 | Journal of thrombosis and haemostasis |
31969017 | Genetically Determined ABO Blood Group and its Associations With Health and Disease. | Groot HE et al. | 2020 | Arteriosclerosis, thrombosis, and vascular biology |
32110755 | Myocardial infarction, prothrombotic genotypes, and venous thrombosis risk: The Tromsø Study. | Sejrup JK et al. | 2020 | Research and practice in thrombosis and haemostasis |
32402998 | Prothrombotic genotypes and risk of major bleeding in patients with incident venous thromboembolism. | Johnsen HS et al. | 2020 | Thrombosis research |
32671915 | Combined effects of five prothrombotic genotypes and cancer on the risk of a first venous thromboembolic event. | Skille H et al. | 2020 | Journal of thrombosis and haemostasis |
32899439 | Genetic Hypothesis and Pharmacogenetics Side of Renin-Angiotensin-System in COVID-19. | Gemmati D et al. | 2020 | Genes |
33201886 | Clinical, regional, and genetic characteristics of Covid-19 patients from UK Biobank. | Kolin DA et al. | 2020 | PloS one |
33512453 | Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation. | Goumidi L et al. | 2021 | Blood |
33574314 | Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. | Wei CY et al. | 2021 | NPJ genomic medicine |
33659002 | The Genetics of Human Schistosomiasis Infection Intensity and Liver Disease: A Review. | Mewamba EM et al. | 2021 | Frontiers in immunology |
33894687 | ABO blood groups, COVID-19 infection and mortality. | Lehrer S et al. | 2021 | Blood cells, molecules & diseases |
33940655 | Joint Effect of Multiple Prothrombotic Genotypes and Obesity on the Risk of Incident Venous Thromboembolism. | Frischmuth T et al. | 2022 | Thrombosis and haemostasis |
34200207 | Genetic Risk Profiling Associated with Recurrent Unprovoked Venous Thromboembolism. | Hodeib H et al. | 2021 | Genes |
34202464 | Genomic Association vs. Serological Determination of ABO Blood Types in a Chinese Cohort, with Application in Mendelian Randomization. | Wang M et al. | 2021 | Genes |
34215818 | Blood group AB increases risk for surgical necrotizing enterocolitis and focal intestinal perforation in preterm infants with very low birth weight. | Martynov I et al. | 2021 | Scientific reports |
34263111 | Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations. | Salas E et al. | 2021 | TH open |
34465887 | Trans-ethnic genome-wide association study of severe COVID-19. | Wu P et al. | 2021 | Communications biology |
34765649 | The Higher Prevalence of Venous Thromboembolism in the Hungarian Roma Population Could Be Due to Elevated Genetic Risk and Stronger Gene-Environmental Interactions. | Natae SF et al. | 2021 | Frontiers in cardiovascular medicine |
34784644 | The Risk of Venous Thromboembolism Attributed to Established Prothrombotic Genotypes. | Evensen LH et al. | 2022 | Thrombosis and haemostasis |
34812738 | Identification and replication of novel genetic variants of ABO gene to reduce the incidence of diseases and promote longevity by modulating lipid homeostasis. | Ni X et al. | 2021 | Aging |
35222515 | Genetic Loci Associated With COVID-19 Positivity and Hospitalization in White, Black, and Hispanic Veterans of the VA Million Veteran Program. | Peloso GM et al. | 2021 | Frontiers in genetics |
35377938 | ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia. | Karnes JH et al. | 2022 | Blood |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
Top▲
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.