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.
rs12252
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:320772 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.145510 (38515/264690, TOPMED)G=0.127300 (31738/249316, GnomAD_exome)G=0.126602 (17725/140006, GnomAD) (+ 16 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
IFITM3 : Synonymous VariantLOC105376505 : Intron Variant
- Publications
- 54 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 | 65438 | A=0.92562 | G=0.07438 |
European | Sub | 47200 | A=0.95949 | G=0.04051 |
African | Sub | 8366 | A=0.7556 | G=0.2444 |
African Others | Sub | 302 | A=0.689 | G=0.311 |
African American | Sub | 8064 | A=0.7581 | G=0.2419 |
Asian | Sub | 168 | A=0.381 | G=0.619 |
East Asian | Sub | 112 | A=0.348 | G=0.652 |
Other Asian | Sub | 56 | A=0.45 | G=0.55 |
Latin American 1 | Sub | 498 | A=0.855 | G=0.145 |
Latin American 2 | Sub | 628 | A=0.817 | G=0.183 |
South Asian | Sub | 98 | A=0.86 | G=0.14 |
Other | Sub | 8480 | A=0.9287 | G=0.0713 |
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 | A=0.854490 | G=0.145510 |
gnomAD - Exomes | Global | Study-wide | 249316 | A=0.872700 | G=0.127300 |
gnomAD - Exomes | European | Sub | 134654 | A=0.954387 | G=0.045613 |
gnomAD - Exomes | Asian | Sub | 48562 | A=0.71603 | G=0.28397 |
gnomAD - Exomes | American | Sub | 34516 | A=0.81600 | G=0.18400 |
gnomAD - Exomes | African | Sub | 15472 | A=0.74696 | G=0.25304 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10064 | A=0.90064 | G=0.09936 |
gnomAD - Exomes | Other | Sub | 6048 | A=0.9107 | G=0.0893 |
gnomAD - Genomes | Global | Study-wide | 140006 | A=0.873398 | G=0.126602 |
gnomAD - Genomes | European | Sub | 75860 | A=0.95614 | G=0.04386 |
gnomAD - Genomes | African | Sub | 41918 | A=0.75030 | G=0.24970 |
gnomAD - Genomes | American | Sub | 13640 | A=0.88292 | G=0.11708 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.9013 | G=0.0987 |
gnomAD - Genomes | East Asian | Sub | 3118 | A=0.4570 | G=0.5430 |
gnomAD - Genomes | Other | Sub | 2148 | A=0.8543 | G=0.1457 |
ExAC | Global | Study-wide | 120562 | A=0.875342 | G=0.124658 |
ExAC | Europe | Sub | 73262 | A=0.95341 | G=0.04659 |
ExAC | Asian | Sub | 25032 | A=0.72767 | G=0.27233 |
ExAC | American | Sub | 11574 | A=0.80594 | G=0.19406 |
ExAC | African | Sub | 9794 | A=0.7503 | G=0.2497 |
ExAC | Other | Sub | 900 | A=0.881 | G=0.119 |
Allele Frequency Aggregator | Total | Global | 49294 | A=0.93441 | G=0.06559 |
Allele Frequency Aggregator | European | Sub | 37272 | A=0.95726 | G=0.04274 |
Allele Frequency Aggregator | Other | Sub | 7056 | A=0.9297 | G=0.0703 |
Allele Frequency Aggregator | African | Sub | 3574 | A=0.7652 | G=0.2348 |
Allele Frequency Aggregator | Latin American 2 | Sub | 628 | A=0.817 | G=0.183 |
Allele Frequency Aggregator | Latin American 1 | Sub | 498 | A=0.855 | G=0.145 |
Allele Frequency Aggregator | Asian | Sub | 168 | A=0.381 | G=0.619 |
Allele Frequency Aggregator | South Asian | Sub | 98 | A=0.86 | G=0.14 |
14KJPN | JAPANESE | Study-wide | 28258 | A=0.39235 | G=0.60765 |
8.3KJPN | JAPANESE | Study-wide | 16756 | A=0.39610 | G=0.60390 |
GO Exome Sequencing Project | Global | Study-wide | 12184 | A=0.89954 | G=0.10046 |
GO Exome Sequencing Project | European American | Sub | 8288 | A=0.9598 | G=0.0402 |
GO Exome Sequencing Project | African American | Sub | 3896 | A=0.7713 | G=0.2287 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.7698 | G=0.2302 |
1000Genomes_30x | African | Sub | 1786 | A=0.7447 | G=0.2553 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.9581 | G=0.0419 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.8511 | G=0.1489 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.4786 | G=0.5214 |
1000Genomes_30x | American | Sub | 980 | A=0.820 | G=0.180 |
1000Genomes | Global | Study-wide | 5008 | A=0.7636 | G=0.2364 |
1000Genomes | African | Sub | 1322 | A=0.7398 | G=0.2602 |
1000Genomes | East Asian | Sub | 1008 | A=0.4722 | G=0.5278 |
1000Genomes | Europe | Sub | 1006 | A=0.9592 | G=0.0408 |
1000Genomes | South Asian | Sub | 978 | A=0.853 | G=0.147 |
1000Genomes | American | Sub | 694 | A=0.823 | G=0.177 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.9663 | G=0.0337 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.9652 | G=0.0348 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.3932 | G=0.6068 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.965 | G=0.035 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.967 | G=0.033 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.991 | G=0.009 |
SGDP_PRJ | Global | Study-wide | 228 | A=0.360 | G=0.640 |
Qatari | Global | Study-wide | 216 | A=0.903 | G=0.097 |
Siberian | Global | Study-wide | 14 | A=0.43 | G=0.57 |
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 11 | NC_000011.10:g.320772A>G |
GRCh37.p13 chr 11 | NC_000011.9:g.320772A>G |
IFITM3 RefSeqGene | NG_032755.1:g.5143T>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
IFITM3 transcript variant 1 | NM_021034.3:c.42T>C | S [AGT] > S [AGC] | Coding Sequence Variant |
interferon-induced transmembrane protein 3 | NP_066362.2:p.Ser14= | S (Ser) > S (Ser) | Synonymous Variant |
IFITM3 transcript variant 2 | NR_049759.2:n.89T>C | N/A | Non Coding Transcript Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC105376505 transcript variant X1 | XR_007062535.1:n. | N/A | Intron Variant |
LOC105376505 transcript variant X2 | XR_007062536.1:n. | N/A | Intron Variant |
LOC105376505 transcript variant X3 | XR_007062537.1:n. | N/A | Intron Variant |
LOC105376505 transcript variant X4 | XR_007062538.1:n. | N/A | Intron Variant |
LOC105376505 transcript variant X5 | XR_007062539.1:n. | N/A | Intron Variant |
LOC105376505 transcript variant X6 | XR_007062540.1:n. | N/A | Intron 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 |
---|---|---|
RCV000024238.2 | Influenza, severe, susceptibility to | Risk-Factor |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | A= | G |
---|---|---|
GRCh38.p14 chr 11 | NC_000011.10:g.320772= | NC_000011.10:g.320772A>G |
GRCh37.p13 chr 11 | NC_000011.9:g.320772= | NC_000011.9:g.320772A>G |
IFITM3 RefSeqGene | NG_032755.1:g.5143= | NG_032755.1:g.5143T>C |
IFITM3 transcript variant 1 | NM_021034.3:c.42= | NM_021034.3:c.42T>C |
IFITM3 transcript variant 1 | NM_021034.2:c.42= | NM_021034.2:c.42T>C |
IFITM3 transcript variant 2 | NR_049759.2:n.89= | NR_049759.2:n.89T>C |
IFITM3 transcript variant 2 | NR_049759.1:n.143= | NR_049759.1:n.143T>C |
interferon-induced transmembrane protein 3 | NP_066362.2:p.Ser14= | NP_066362.2:p.Ser14= |
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 | LEE | ss1542566 | Oct 05, 2000 (102) |
2 | WI_SSAHASNP | ss12125182 | Jul 11, 2003 (116) |
3 | SC_SNP | ss16145934 | Feb 27, 2004 (120) |
4 | CGAP-GAI | ss16226565 | Feb 28, 2004 (124) |
5 | MGC_GENOME_DIFF | ss28506309 | Sep 24, 2004 (126) |
6 | MGC_GENOME_DIFF | ss28512275 | Sep 24, 2004 (126) |
7 | ABI | ss46528140 | Mar 11, 2006 (126) |
8 | HGSV | ss86022479 | Dec 14, 2007 (130) |
9 | GMI | ss155798010 | Dec 01, 2009 (131) |
10 | SEATTLESEQ | ss159721906 | Dec 01, 2009 (131) |
11 | COMPLETE_GENOMICS | ss168824600 | Jul 04, 2010 (132) |
12 | 1000GENOMES | ss225043055 | Jul 14, 2010 (132) |
13 | 1000GENOMES | ss242071197 | Jul 15, 2010 (132) |
14 | GMI | ss280846911 | May 04, 2012 (137) |
15 | PJP | ss291028516 | May 09, 2011 (134) |
16 | CLINSEQ_SNP | ss491635629 | May 04, 2012 (137) |
17 | TISHKOFF | ss562326354 | Apr 25, 2013 (138) |
18 | SSMP | ss657641885 | Apr 25, 2013 (138) |
19 | NHLBI-ESP | ss712984524 | Apr 25, 2013 (138) |
20 | EVA-GONL | ss988112719 | Aug 21, 2014 (142) |
21 | JMKIDD_LAB | ss1067518001 | Aug 21, 2014 (142) |
22 | 1000GENOMES | ss1339768741 | Aug 21, 2014 (142) |
23 | OMIM-CURATED-RECORDS | ss1505811032 | Dec 08, 2014 (142) |
24 | EVA_UK10K_ALSPAC | ss1625816589 | Apr 01, 2015 (144) |
25 | EVA_UK10K_TWINSUK | ss1668810622 | Apr 01, 2015 (144) |
26 | EVA_EXAC | ss1690159057 | Apr 01, 2015 (144) |
27 | EVA_MGP | ss1711276415 | Apr 01, 2015 (144) |
28 | HAMMER_LAB | ss1806652176 | Sep 08, 2015 (146) |
29 | WEILL_CORNELL_DGM | ss1931472844 | Feb 12, 2016 (147) |
30 | JJLAB | ss2026477062 | Sep 14, 2016 (149) |
31 | USC_VALOUEV | ss2154761423 | Dec 20, 2016 (150) |
32 | SYSTEMSBIOZJU | ss2627707704 | Nov 08, 2017 (151) |
33 | GRF | ss2699028240 | Nov 08, 2017 (151) |
34 | GNOMAD | ss2738647430 | Nov 08, 2017 (151) |
35 | GNOMAD | ss2748511174 | Nov 08, 2017 (151) |
36 | GNOMAD | ss2895348298 | Nov 08, 2017 (151) |
37 | SWEGEN | ss3007444476 | Nov 08, 2017 (151) |
38 | OMUKHERJEE_ADBS | ss3646418666 | Oct 12, 2018 (152) |
39 | ACPOP | ss3737839346 | Jul 13, 2019 (153) |
40 | EVA | ss3748833622 | Jul 13, 2019 (153) |
41 | KHV_HUMAN_GENOMES | ss3814183746 | Jul 13, 2019 (153) |
42 | EVA | ss3824572647 | Apr 26, 2020 (154) |
43 | SGDP_PRJ | ss3875445194 | Apr 26, 2020 (154) |
44 | KRGDB | ss3923657544 | Apr 26, 2020 (154) |
45 | EVA | ss3986052604 | Apr 26, 2021 (155) |
46 | TOPMED | ss4872361186 | Apr 26, 2021 (155) |
47 | TOMMO_GENOMICS | ss5200281016 | Apr 26, 2021 (155) |
48 | EVA | ss5236889125 | Apr 26, 2021 (155) |
49 | EVA | ss5237656407 | Oct 13, 2022 (156) |
50 | 1000G_HIGH_COVERAGE | ss5286093431 | Oct 13, 2022 (156) |
51 | TRAN_CS_UWATERLOO | ss5314430234 | Oct 13, 2022 (156) |
52 | EVA | ss5397190120 | Oct 13, 2022 (156) |
53 | 1000G_HIGH_COVERAGE | ss5581071754 | Oct 13, 2022 (156) |
54 | EVA | ss5624015086 | Oct 13, 2022 (156) |
55 | SANFORD_IMAGENETICS | ss5650454636 | Oct 13, 2022 (156) |
56 | TOMMO_GENOMICS | ss5746915808 | Oct 13, 2022 (156) |
57 | YY_MCH | ss5812047475 | Oct 13, 2022 (156) |
58 | EVA | ss5836135660 | Oct 13, 2022 (156) |
59 | EVA | ss5918493523 | Oct 13, 2022 (156) |
60 | EVA | ss5936043146 | Oct 13, 2022 (156) |
61 | EVA | ss5941765406 | Oct 13, 2022 (156) |
62 | EVA | ss5981264317 | Oct 13, 2022 (156) |
63 | 1000Genomes | NC_000011.9 - 320772 | Oct 12, 2018 (152) |
64 | 1000Genomes_30x | NC_000011.10 - 320772 | Oct 13, 2022 (156) |
65 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 320772 | Oct 12, 2018 (152) |
66 | ExAC | NC_000011.9 - 320772 | Oct 12, 2018 (152) |
67 | gnomAD - Genomes | NC_000011.10 - 320772 | Apr 26, 2021 (155) |
68 | gnomAD - Exomes | NC_000011.9 - 320772 | Jul 13, 2019 (153) |
69 | GO Exome Sequencing Project | NC_000011.9 - 320772 | Oct 12, 2018 (152) |
70 | Genome of the Netherlands Release 5 | NC_000011.9 - 320772 | Apr 26, 2020 (154) |
71 | KOREAN population from KRGDB | NC_000011.9 - 320772 | Apr 26, 2020 (154) |
72 | Medical Genome Project healthy controls from Spanish population | NC_000011.9 - 320772 | Apr 26, 2020 (154) |
73 | Northern Sweden | NC_000011.9 - 320772 | Jul 13, 2019 (153) |
74 | Qatari | NC_000011.9 - 320772 | Apr 26, 2020 (154) |
75 | SGDP_PRJ | NC_000011.9 - 320772 | Apr 26, 2020 (154) |
76 | Siberian | NC_000011.9 - 320772 | Apr 26, 2020 (154) |
77 | 8.3KJPN | NC_000011.9 - 320772 | Apr 26, 2021 (155) |
78 | 14KJPN | NC_000011.10 - 320772 | Oct 13, 2022 (156) |
79 | TopMed | NC_000011.10 - 320772 | Apr 26, 2021 (155) |
80 | UK 10K study - Twins | NC_000011.9 - 320772 | Oct 12, 2018 (152) |
81 | ALFA | NC_000011.10 - 320772 | Apr 26, 2021 (155) |
82 | ClinVar | RCV000024238.2 | Oct 12, 2018 (152) |
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) |
---|---|
rs1059734 | Jan 04, 2002 (102) |
rs11539512 | Dec 02, 2004 (124) |
rs17852007 | Mar 11, 2006 (126) |
rs17857973 | Mar 11, 2006 (126) |
rs56885004 | May 23, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss86022479, ss168824600, ss280846911, ss291028516, ss491635629 | NC_000011.8:310771:A:G | NC_000011.10:320771:A:G | (self) |
52239772, 29026057, 399554, 7852636, 1030308, 12938018, 30834938, 392175, 11124211, 13514774, 27462174, 7277777, 58250323, 29026057, ss225043055, ss242071197, ss562326354, ss657641885, ss712984524, ss988112719, ss1067518001, ss1339768741, ss1625816589, ss1668810622, ss1690159057, ss1711276415, ss1806652176, ss1931472844, ss2026477062, ss2154761423, ss2627707704, ss2699028240, ss2738647430, ss2748511174, ss2895348298, ss3007444476, ss3646418666, ss3737839346, ss3748833622, ss3824572647, ss3875445194, ss3923657544, ss3986052604, ss5200281016, ss5397190120, ss5624015086, ss5650454636, ss5836135660, ss5936043146, ss5941765406, ss5981264317 | NC_000011.9:320771:A:G | NC_000011.10:320771:A:G | (self) |
RCV000024238.2, 68597689, 368938972, 80752912, 87906842, 9374919931, ss1505811032, ss3814183746, ss4872361186, ss5236889125, ss5237656407, ss5286093431, ss5314430234, ss5581071754, ss5746915808, ss5812047475, ss5918493523 | NC_000011.10:320771:A:G | NC_000011.10:320771:A:G | (self) |
ss1542566, ss16226565, ss28506309, ss28512275, ss46528140, ss155798010, ss159721906 | NT_009237.18:260771:A:G | NC_000011.10:320771:A:G | (self) |
ss12125182 | NT_035113.4:828215:T:C | NC_000011.10:320771:A:G | (self) |
ss16145934 | NT_035113.5:260771:A:G | NC_000011.10:320771:A:G | (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 |
---|---|---|---|---|
19946179 | Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis. | Seo GS et al. | 2010 | Experimental & molecular medicine |
20943977 | Interferon-induced cell membrane proteins, IFITM3 and tetherin, inhibit vesicular stomatitis virus infection via distinct mechanisms. | Weidner JM et al. | 2010 | Journal of virology |
22446628 | IFITM3 restricts the morbidity and mortality associated with influenza. | Everitt AR et al. | 2012 | Nature |
23361009 | Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals. | Zhang YH et al. | 2013 | Nature communications |
23997235 | IFITM3 and susceptibility to respiratory viral infections in the community. | Mills TC et al. | 2014 | The Journal of infectious diseases |
24367104 | Early hypercytokinemia is associated with interferon-induced transmembrane protein-3 dysfunction and predictive of fatal H7N9 infection. | Wang Z et al. | 2014 | Proceedings of the National Academy of Sciences of the United States of America |
25314048 | IFITM3 polymorphism rs12252-C restricts influenza A viruses. | Williams DE et al. | 2014 | PloS one |
25778715 | IFITM3 rs12252 T>C polymorphism is associated with the risk of severe influenza: a meta-analysis. | Xuan Y et al. | 2015 | Epidemiology and infection |
25784441 | Interferon-induced transmembrane protein-3 rs12252-C is associated with rapid progression of acute HIV-1 infection in Chinese MSM cohort. | Zhang Y et al. | 2015 | AIDS (London, England) |
25942469 | Interferon-Inducible Transmembrane Protein 3 Genetic Variant rs12252 and Influenza Susceptibility and Severity: A Meta-Analysis. | Yang X et al. | 2015 | PloS one |
27156515 | Multiple gene mutations identified in patients infected with influenza A (H7N9) virus. | Chen C et al. | 2016 | Scientific reports |
27171184 | Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. | Kuo HC et al. | 2016 | PloS one |
27351739 | Hospitalization Risk Due to Respiratory Illness Associated with Genetic Variation at IFITM3 in Patients with Influenza A(H1N1)pdm09 Infection: A Case-Control Study. | Gaio V et al. | 2016 | PloS one |
27492307 | IFITM3 and severe influenza virus infection. No evidence of genetic association. | López-Rodríguez M et al. | 2016 | European journal of clinical microbiology & infectious diseases |
28096800 | Interferon-Induced Transmembrane Protein 3 Inhibits Hantaan Virus Infection, and Its Single Nucleotide Polymorphism rs12252 Influences the Severity of Hemorrhagic Fever with Renal Syndrome. | Xu-Yang Z et al. | 2016 | Frontiers in immunology |
28510725 | IFITM3, TLR3, and CD55 Gene SNPs and Cumulative Genetic Risks for Severe Outcomes in Chinese Patients With H7N9/H1N1pdm09 Influenza. | Lee N et al. | 2017 | The Journal of infectious diseases |
28531322 | Evaluation of IFITM3 rs12252 Association With Severe Pediatric Influenza Infection. | Randolph AG et al. | 2017 | The Journal of infectious diseases |
28713779 | IFITM3 Rs12252-C Variant Increases Potential Risk for Severe Influenza Virus Infection in Chinese Population. | Pan Y et al. | 2017 | Frontiers in cellular and infection microbiology |
28714988 | SNP-mediated disruption of CTCF binding at the IFITM3 promoter is associated with risk of severe influenza in humans. | Allen EK et al. | 2017 | Nature medicine |
28813716 | No Correlation of the Disease Severity of Influenza A Virus Infection with the rs12252 Polymorphism of the Interferon-Induced Transmembrane Protein 3 Gene. | Kim YC et al. | 2017 | Intervirology |
28842783 | Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity. | David S et al. | 2018 | Immunogenetics |
29053189 | Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission. | Carter TC et al. | 2018 | Journal of medical virology |
29121968 | Association of IFITM3 rs12252 polymorphisms, BMI, diabetes, and hypercholesterolemia with mild flu in an Iranian population. | Mehrbod P et al. | 2017 | Virology journal |
29202190 | Lack of Truncated IFITM3 Transcripts in Cells Homozygous for the rs12252-C Variant That is Associated With Severe Influenza Infection. | Makvandi-Nejad S et al. | 2018 | The Journal of infectious diseases |
29575524 | Distribution of IFITM3 polymorphism (dbSNP: rs12252) in mestizo populations in four states of Mexico. | López-Jiménez JJ et al. | 2018 | International journal of immunogenetics |
29868492 | High Level Antibody Response to Pandemic Influenza H1N1/09 Virus Is Associated With Interferon-Induced Transmembrane Protein-3 rs12252-CC in Young Adults. | Qin L et al. | 2018 | Frontiers in cellular and infection microbiology |
29940276 | Association between IFITM3 rs12252 polymorphism and influenza susceptibility and severity: A meta-analysis. | Prabhu SS et al. | 2018 | Gene |
30421689 | Association between rs12252 and influenza susceptibility and severity: an updated meta-analysis. | Chen T et al. | 2018 | Epidemiology and infection |
30633185 | Interferon-induced transmembrane protein-3 rs12252-CC is associated with low differentiation and progression of hepatocellular carcinoma. | Hou Y et al. | 2019 | Medicine |
30662816 | Antiviral Protection by IFITM3 In Vivo. | Zani A et al. | 2018 | Current clinical microbiology reports |
30723081 | Human megakaryocytes possess intrinsic antiviral immunity through regulated induction of IFITM3. | Campbell RA et al. | 2019 | Blood |
30987701 | IFITM3: How genetics influence influenza infection demographically. | Wellington D et al. | 2019 | Biomedical journal |
31410631 | Genetic characteristics and polymorphisms in the chicken interferon-induced transmembrane protein (IFITM3) gene. | Kim YC et al. | 2019 | Veterinary research communications |
31488196 | Host susceptibility to severe influenza A virus infection. | Clohisey S et al. | 2019 | Critical care (London, England) |
31707755 | Characteristics of H7N9 avian influenza pneumonia: a retrospective analysis of 17 cases. | Yu WQ et al. | 2020 | Internal medicine journal |
32321380 | IFITM3 affects the level of antibody response after influenza vaccination. | Lei N et al. | 2020 | Emerging microbes & infections |
32348495 | Interferon-Induced Transmembrane Protein 3 Genetic Variant rs12252-C Associated With Disease Severity in Coronavirus Disease 2019. | Zhang Y et al. | 2020 | The Journal of infectious diseases |
32754450 | Investigation of Human IFITM3 Polymorphisms rs34481144A and rs12252C and Risk for Influenza A(H1N1)pdm09 Severity in a Brazilian Cohort. | Martins JSC et al. | 2020 | Frontiers in cellular and infection microbiology |
32936528 | Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19). | Zubiaur P et al. | 2020 | Clinical and translational science |
33011811 | Minor Allele of Interferon-Induced Transmembrane Protein 3 Polymorphism (rs12252) Is Covered Against Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Mortality: A Worldwide Epidemiological Investigation. | Pati A et al. | 2021 | The Journal of infectious diseases |
33113474 | The Interferon-induced transmembrane protein 3 gene (IFITM3) rs12252 C variant is associated with COVID-19. | Gómez J et al. | 2021 | Cytokine |
33169083 | Genetic association between the rs12252 SNP of the interferon-induced transmembrane protein gene and influenza A virus infection in the Korean population. | Kim YC et al. | 2021 | Molecular & cellular toxicology |
33174121 | Ethnic variation in risk genotypes based on single nucleotide polymorphisms (SNPs) of the interferon-inducible transmembrane 3 (IFITM3) gene, a susceptibility factor for pandemic 2009 H1N1 influenza A virus. | Kim YC et al. | 2020 | Immunogenetics |
33465303 | HCMV infection and IFITM3 rs12252 are associated with Rasmussen's encephalitis disease progression. | Wang YS et al. | 2021 | Annals of clinical and translational neurology |
33596480 | DNA methylation and SNP in IFITM3 are correlated with hand, foot and mouth disease caused by enterovirus 71. | Li M et al. | 2021 | International journal of infectious diseases |
33711707 | The influence of IFITM3 polymorphisms on susceptibility to SARS-CoV-2 infection and severity of COVID-19. | Schönfelder K et al. | 2021 | Cytokine |
33816616 | Interferon-Induced Transmembrane Protein 3 Expression Upregulation Is Involved in Progression of Hepatocellular Carcinoma. | Hou Y et al. | 2021 | BioMed research international |
33838280 | Interferon-induced transmembrane protein-3 genetic variant rs12252 is associated with COVID-19 mortality. | Alghamdi J et al. | 2021 | Genomics |
34870250 | Association between the interferon-induced transmembrane protein 3 gene (IFITM3) rs34481144 / rs12252 haplotypes and COVID-19. | Cuesta-Llavona E et al. | 2021 | Current research in virological science |
34930124 | A systematic review and meta-analysis of host genetic factors associated with influenza severity. | Van Goethem N et al. | 2021 | BMC genomics |
35461906 | Interferon-induced transmembrane protein 3 gene polymorphisms are associated with COVID-19 susceptibility and severity: A meta-analysis. | Li Y et al. | 2022 | The Journal of infection |
35792282 | Impact of interferon-induced transmembrane protein 3 gene rs12252 polymorphism on COVID-19 mortality. | Ahmadi I et al. | 2022 | Cytokine |
35822078 | Association of interferon gamma inducible protein-10, monocyte chemoattractant protein-1, macrophage inflammatory protein-1 alpha, interleukin-6, and rs12252 single nucleotide polymorphism of interferon-induced transmembrane protein-3 gene with the severity of COVID-19 infection. | Mulla S et al. | 2022 | The Egyptian journal of internal medicine |
35987511 | Systematic review and meta-analysis of human genetic variants contributing to COVID-19 susceptibility and severity. | Gupta K et al. | 2022 | Gene |
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.